Ophthalmology & Hearing

Xpanded Panels

Nystagmus Xpanded Panel

Forms and Documents

Test Details

Molecular confirmation of a clinical diagnosis
To assist with decisions about treatment and management of individuals with nystagmus
Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies

  • Next-Gen Sequencing

Ordering

J894
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81400x1, 81401x1, 81403x1, 81404x5, 81406x2, 81407x1, 81408x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

Retinal Dystrophy Xpanded Panel

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with retinal dystrophies
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Next-Gen Sequencing

Ordering

J905
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81434x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Sahel et al. (2014) Cold Spring Harb Perspect Med 5 (2):a017111 (PMID: 25324231)
  2. Kocur et al. (2002) Br J Ophthalmol 86 (7):716-22 (PMID: 12084735);
  3. Ayuso et al. (2010) Genome Med 2 (5):34 (PMID: 20519033)
  4. Finger et al. (2011) Invest. Ophthalmol. Vis. Sci. 52 (7):4381-9 (PMID: 21447690)
  5. den Hollander et al. (2006) American Journal Of Human Genetics 79 (3):556-61 (PMID: 16909394)
  6. Braun et al. (2013) Human Molecular Genetics 22 (25):5136-45 (PMID: 23918662)
  7. Zernant et al. (2014) Hum. Mol. Genet. 23 (25):6797-806 (PMID: 25082829)
  8. Bauwens et al. (2015) Hum. Mutat. 36 (1):39-42 (PMID: 25346251)
  9. Schulz et al. (2017) Invest. Ophthalmol. Vis. Sci. 58 (1):394-403 (PMID: 28118664)
  10. Beryozkin et al. (2015) Sci Rep 5 :13187 (PMID: 26306921)
  11. Lee et al. (2015) Am. J. Ophthalmol. 160 (2):354-363.e9 (PMID: 25910913)
  12. de Castro-Miro et al. (2016) PLoS ONE 11 (12):e0168966 (PMID: 28005958)
  13. Haer-Wigman et al. (2017) Eur. J. Hum. Genet. 25 (5):591-599 (PMID: 28224992)
  14. Riera et al. (2017) Sci Rep 7 :42078 (PMID: 28181551)
  15. Carss et al. (2017) Am. J. Hum. Genet. 100 (1):75-90 (PMID: 28041643)
  16. Retterer et al. (2015) Genet. Med.: (PMID: 26633542)

Multi-gene Eye Disorder Panels

Anophthalmia/Microphthalmia Panel

Forms and Documents

Test Details

ALDH1A3, BCOR, BMP4, BMP7, COX7B, CRYBA4, FOXE3, GDF6, HCCS, MITF, NAA10, NDUFB11, OTX2, PAX6, PRSS56, RAX, SALL1, SHH, SIX6, SOX2, STRA6, TENM3, VSX2 (CHX10)
  • Absent or underdeveloped eyes and eye tissue resulting in reduced axial length and narrow palpebreal fissures
  • Coloboma, cataract, glaucoma or microcornia in addition to overall eye underdevelopment
  • Associated findings such as cleft lip/palate, seizures, brain malformations, learning and developmental disabilities
  • Chromosome aberrations, as seen in approximately 1/4 of individuals with A/M
  • Next-Gen Sequencing
  • Exon Array Dx

Ordering

J957
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Verma et al. (2007) Orphanet J Rare Dis 2 :47 (PMID: 18039390)
  2. Chassaing et al. (2014) Clinical Genetics 86 (4):326-34 (PMID: 24033328)
  3. Bardakjian et al., (2015) GeneReviews® https://www.ncbi.nlm.nih.gov/books/NBK1378/
  4. Deml et al. (2016) Eur. J. Hum. Genet. 24 (4):535-41 (PMID: 26130484)
  5. Slavotinek et al. (2011) Mol. Genet. Metab. 104 (4):448-56 (PMID: 22005280)
  6. Abouzeid et al. (2014) Hum. Mutat. 35 (8):949-53 (PMID: 24777706)
  7. Ng et al. (2004) Nature Genetics 36 (4):411-6 (PMID: 15004558)
  8. Jimenez et al. (2011) BMC Med. Genet. 12 :172 (PMID: 22204637)
  9. Reis et al. (2011) Human Genetics 130 (4):495-504 (PMID: 21340693)
  10. Indrieri et al. (2012) Am. J. Hum. Genet. 91 (5):942-9 (PMID: 23122588)
  11. Billingsley et al. (2006) Am. J. Hum. Genet.79 (4):702-9 (PMID: 16960806)
  12. Reis et al. (2010) Am. J. Med. Genet. Part A 152A (3):582-90 (PMID: 20140963)
  13. Ye et al. (2010) Human Molecular Genetics 19 (2):287-98 (PMID: 19864492)
  14. van Rahden et al. (2014) Orphanet J Rare Dis 9 :53 (PMID: 24735900)
  15. George et al. (2016) Am. J. Hum. Genet. 99 (6):1388-1394 (PMID: 27889061)
  16. Esmailpour et al. (2014) Journal Of Medical Genetics 51 (3):185-96 (PMID: 24431331)
  17. van Rahden et al. (2015) American Journal Of Human Genetics 96 (4):640-50 (PMID: 25772934)
  18. Gal et al. (2011) Am. J. Hum. Genet. 88 (3):382-90 (PMID: 21397065)
  19. Bardakjian et al. (2009) BMC Med. Genet. 10 :137 (PMID: 20003547)
  20. Schimmenti et al. (2003) Am. J. Med. Genet. A 116A (3):215-21 (PMID: 12503095)
  21. Aldahmesh et al. (2013) Clinical Genetics 84 (2):198-9 (PMID: 23167593)
  22. Reis et al. (2015) Birth Defects Res. C Embryo Today 105 (2):96-113 (PMID: 26046913)
  23. Gerth-Kahlert et al. (2013) Molecular Genetics & Genomic Medicine 1 (1):15-31 (PMID: 24498598)
  24. Chassaing et al. (2016) Am. J. Med. Genet. A 170 (7):1895-8 (PMID: 27103084)
  25. Reis et al. (2011) Mol. Vis. 17 :2527-32 (PMID: 21976963)
  26. Wyatt et al. (2010) Hum. Mutat. 31 (7):781-7 (PMID: 20506283)
Cataract Panel

Forms and Documents

Test Details

ABCA3, ADAMTSL4, AGK, AKR1E2, ALDH18A1, BCOR, BEST1, BFSP1, BFSP2, CHMP4B, COL11A1, COL2A1, COL4A1, COL4A2, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, CYP51A1, EPG5, EPHA2, FAM126A, FOXC1, FOXE3, FTL, FYCO1, FZD4, GALK1, GCNT2, GFER, GJA1, GJA3, GJA8, HMX1, HSF4, JAM3, LIM2, LONP1, LSS, MAF, MIP, MIR184, MYH9, NDP, NF2, NHS, OCRL, OPA3, P3H2, PAX6, PITX2, PITX3, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RECQL4, RGS6, RNLS, RRAGA, SC5D, SIL1, SIPA1L3, SIX6, SLC16A12, SLC33A1, TBC1D20, TDRD7, TFAP2A, TMEM70, UNC45B, VIM, VSX2 (CHX10), WDR87, WFS1, WRN
  • Cataracts that are not age-related
  • Cataracts co-occurring with other symptoms
  • Microopthalmia and glaucoma commonly co-occur. Additional eye findings may suggest a syndrome
  • Sporadic or familial inheritance patterns
  • Next-Gen Sequencing
  • Exon Array Dx

Ordering

J958
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab

Billing

81403x1; 81404x1; 81405x2; 81406x1; 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Deng et al. (2014) Eur J Med Genet 57 (2-3):113-22 (PMID: 24384146)
  2. Patel et al. (2017) Hum. Genet. 136 (2):205-225 (PMID: 27878435)
  3. Ma et al. (2016) Hum. Mutat. 37 (4):371-84 (PMID: 26694549)
  4. Shiels et al. (2015) Prog Mol Biol Transl Sci 134 :203-18 (PMID: 26310156)
  5. Aldahmesh et al. (2012) Genetics In Medicine : Official Journal Of The American College Of Medical Genetics 14 (12):955-62 (PMID: 22935719)
Cone-Rod Dystrophy Panel

Forms and Documents

Test Details

ABCA4, ADAM9, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CDH3, CDHR1, CEP290, CERKL, CNGA3, CNGB3, CRX, DRAM2, ELOVL4, GUCA1A, GUCY2D, PAX6, PITPNM3, POC1B, PROM1, RAB28, RAX2 (QRX), RDH5, RDS (PRPH2), RIMS1, RPGR, RPGRIP1, SEMA4A, TTLL5
  • Deceased visual acuity, photophobia, and loss of color vision in childhood
  • Issues with reading, focusing on an image, or blind spots in central vision (scotomas)
  • Subsequent night blindness, central vision loss, and peripheral vision loss in later stages
  • Signs of nystagmus with progression of disease
  • Next-Gen Sequencing
  • Exon Array Dx

Ordering

J956
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab

Billing

81404x2; 81408x1; 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Hamel CP et al., (2007) Orphanet J Rare Dis (1)2:7
  2. Sohocki et al., (2000) Mol Genet Metab 70:142–150
  3. Allikmets, et al (1998) Gene 215: 111-122
  4. Cremers F P M et al., (1998) Hum Molec Genet 7: 355-362
  5. Klevering B J et al., (2004) Eur J Hum Genet.12(12):1024-32
  6. Littink et al., (2010) 51(11):5943-5951
  7. Thiadens et al., (2012) Opthalmology 119(4): 819-26
  8. Boulanger-Scemama et al., (2015) Orphanet J Rare Dis 10: 85
  9. Roosing S et al., (2014) Prog Retin Eye Res 42:1-26
  10. El-Haig WM et al,. (2014) Br J Opthalmol 98(12): 1718-23
  11. Aboshiha et al., (2015) Opthalmology 122:862-864
  12. Rahner et al., (2016) Opthalmic Genet 37(3): 294-300
  13. Khan and Bolz (2016) Opthalmic Genet 37(3): 301-6
  14. Sprecher et al., (2001) Nature Genet 29: 134-136
  15. Nikopoulos K (2015) Sci Rep 5:13902
  16. Shaikh RS (2015) Eur J Hum Genet 23(4): 473-80
  17. El-Asrag ME (2015) Am J Hum Genet 96(6): 948-54
  18. Sergouniotis PI et al., (2015) Invest Opthalmol Vis Sci 56(13): 8083-90
  19. Roosing S et al., (2014) Am J Hum Genet 95(2): 131-42
  20. Durlu YK et al., (2014) JAMA Opthalmol 132(10) 1185-91
  21. Beryozkin A (2014) Invest Opthalmol Vis Sci 52(2): 1149-60
  22. Riveiro-Alvarez (2015) JAMA Opthalmol 133(2):133-9
  23. Abid et al., (2006) J Med Genet 43:378-381
  24. Sergouniotis (2014) Am J Hum Genet 94(5): 760-9
  25. Bendoni et al., (2016) 25(20): 4546-4555
  26. Wang et al., (2004) Hum Mol Genet 13(10): 1025-40
  27. Yang et al., (2015) JAMA Opthalmol 133(6):653-61
  28. Khan et al. (2013) Br J Ophthalmol 97 (3):262-5
  29. Nakamura et al., (2000) Invest Ophthalmol Vis Sci 41(12):3925-32
  30. Nakamura et al. (2003) Doc Ophthalmol 107(1):3-11
  31. Boon et al. (2009) Progress In Retinal And Eye Research 28 (3):187-205
  32. Perrault et al. (2007) Human Mutation 28 (4):416
  33. Bernstein et al. (2001) Investigative Ophthalmology & Visual Science 42 (13):3331-6
  34. Dansault et al. (2007) Molecular Vision 13 :511-23
Congenital Stationary Night Blindness (CSNB) Panel

Forms and Documents

Test Details

CABP4, CACNA1F, CHM, GNAT1, GRM6, NYX, PDE6B, RDH5, RHO, RPE65, SAG, TRPM1
  • Nonprogressive difficulty seeing in low light, existing from birth
  • Reduced visual acuity, myopia, and occasionally nystagmus and strabismus
  • Asymptomatic mothers with affected sons (X-linked inheritance)
  • Exon Array Dx
  • Next-Gen Sequencing

Ordering

J959
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab

Billing

81404x1; 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Xiao et al., (2006) J Hum Genet 51:634-640
  2. Bech-Hansen et al., (2000) Nat Genet 26: 319- 323
  3. Pusch et al., (2000) Nat Genet 26:324-327
  4. Li et al., (2009) Am J Hum Genet 85:711-719
  5. Audo et al., (2009) Am J Hum Genet 85: 720-729
  6. van Genderen et al., (2009) Am J Hum Genet 85: 730-736
  7. Fuchs et al., (1995) Nat Genet 10:360-362
  8. Nakazawa et al., (1998) Arch Ophthalmol 116:498-501
  9. Nakamura et al., (2004) American Academy of Ophthalmology 111(7):1410-1414
  10. Jalkanen et al., (2007) Invest Opthalmol Vis Sci 48:2498-502 (PMID: 17525176)
  11. Nakamura et al., (2000) Invest Ophthalmol Vis Sci 41(12):3925-32
  12. Nakamura et al., (2003) Doc Ophthalmol 107(1):3-11
  13. Wutz et al., (2002) Eur J Hum Genet 10:449-56 (PMID: 12111638)
  14. al-Jandal et al., (1999) Human Mutation 13:75-81
  15. Dryja et al., (1993) Nat Genet 4:280-283
  16. Szabo et al., (2007) Hum Mutat 28(7):741-2
  17. Naeem et al., (2012) Invest Ophthalmol Vis Sci 53(3):1353-61
  18. Zeitz C (2006) Am J Hum Genet 79(4):657-67
  19. Zeitz C (2005) Invest Ophthalmol Vis Sci 46(11):4328-35
  20. Manes et al., (2014) PLoS 9(4):e95768
  21. Gopalakrishna et al. (2017) Cell. Signal. 37 :74-80
  22. Vincent et al., (2016) Am J Hum Gen 98(5):1011-1019
  23. Peachey et al., (2012) Am J Hum Gen 90(2):331-
  24. Audo et al., (2012) Am J Hum Gen 90(2):321-30
  25. Zeitz et al (2013) Am J Hum Gen 92:67-75
  26. Riazuddin et at., (2010) Am J Hum Gen 87(4): 523-31
  27. Neuille et al., (2016) Clin Genet 89: 690-699
  28. Esposito et al. (2011) Human Mutation 32 (12):1460-9
  29. Morimura et al. (1998) Proc. Natl. Acad. Sci. U.S.A. 95 (6):3088-93
  30. den Hollander et al. (2008) Prog Retin Eye Res 27 (4):391-419
  31. Dryja et al., (2005) Proc Natl Acad Sci U.S.A. 102:4884-9
  32. Zeitz et al. (2015) Prog Retin Eye Res 45 :58-110 (PMID: 25307992)
Familial Exudative Vitreoretinopathy (FEVR) Panel

Forms and Documents

Test Details

FZD4, LRP5, NDP, TSPAN12
  • Poor vascularization of the peripheral retina seen on fundus fluorescein angiography
  • Vision loss in addition to retinal detachment, dragged macula, neovascularization, whiteness of the pupil (leukocoria), intraretinal hemorrhage and exudation
  • Osteopenia and osteoporosis in addition to ocular findings above
  • Potentially normal vision and absence of any ocular symptoms despite abnormal retinal blood vessels development
  • Exon Array Dx
  • Sanger/ABI sequencing

Ordering

J955
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab

Billing

81403x1; 81404x1; 81406x1; 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Gilmour, et al. (2015) Eye (London, England) : (PMID: 25323851)
  2. Sızmaz et al. (2015) Turk J Ophthalmol 45 (4):164-168 (PMID: 27800225)
  3. Toomes et al., (1997-2017) GeneReviews® https://www.ncbi.nlm.nih.gov/books/NBK1147/
  4. Liu et al. (2016) J Chin Med Assoc 79 (11):633-638 (PMID: 27720678)
  5. Kondo et al. (2007) Investigative Ophthalmology & Visual Science 48 (3):1276-82 (PMID: 17325173)
  6. Kondo H (2003) Br J Ophthalmol; 87:1291–1295 (PMID: 14507768)
  7. Toomes C et al., (2004) Am J Hum Genet; 74: 721–30 (PMID:15024691)
  8. Nallathambi et al. (2006) Mol. Vis. 12 :1086-92 (PMID: 17093393)
  9. Boonstra et al. (2009) Investigative Ophthalmology & Visual Science 50 (9):4379-85 (PMID: 19324841)
  10. Nikopoulos et al. (2010) Human Mutation 31 (6):656-66 (PMID: 20340138)
  11. Kondo et al. (2011) American Journal Of Ophthalmology 151 (6):1095-1100.e1 (PMID: 21334594)
  12. Poulter et al. (2010) American Journal Of Human Genetics 86 (2):248-53 (PMID: 20159112)
  13. Sims KB. (1999-2014) GeneReviews® https://www.ncbi.nlm.nih.gov/books/NBK1331/
  14. Riveiro-Alvarez et al. (2005) Molecular Vision 11 :705-12 (PMID: 16163268)
Glaucoma Panel

Forms and Documents

Test Details

ADAMTS10, ASB10 (GLC1F), BEST1, BMP4, COL4A1, COL8A2, CREBBP, CYP1B1, FBN1, FOXC1, FOXE3, GJA1, ISPD, LMX1B, LTBP2, MAF, MYOC, NTF4, OPA1, OPA3, OPTC, OPTN, PAX6, PIK3R1, PITX2, PITX3, POMT1, PRSS56, PXDN, RPS19, RRM2B, SBF2, SH3PXD2B, SIX6, TBK1, TMEM126A, TTR, WDR36
  • Glaucoma in early adulthood, childhood, or infancy
  • Peripheral vision loss with further deterioration of central vision
  • Excessive tearing, photophobia, increased intraocular pressure (IOP), bulged eyes
  • Spasms or contractions of the eyelids (blepharospasm)
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J960
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab

Billing

81404x1; 81406x2; 81407x1; 81408x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Abu-Amero et al., (2015) Int J Mol Sci 16(12):28886-911 26690118
  2. Liu et al., (2017) Medicine (Baltimore) 96(26):e7291 (PMID: 28658128)
  3. Abdolrahimzadeh et al., (2015) Biomed Res Int 2015:781294 (PMID: 26451378)
  4. Abu-Amero et al., GeneReviews® 1993-2017: https://www.ncbi.nlm.nih.gov/books/NBK1135/
  5. Cascella et al., (2015) Biomed Res Int 2015:321291 (PMID: 26451367)
  6. Pasutto et al., (2012) Hum. Mol. Genet. 21(6):1336-49 (PMID: 22156576)
  7. Reis et al., (2016) Mol. Vis. 22:1229-1238 (PMID: 27777502)
  8. Aroca-Aguilar et al., (2008) Molecular Vision 14:2097-108 (PMID: 19023451)
  9. Pasutto et al., (2009) Am. J. Hum. Genet. 85(4):447-56 (PMID: 19765683)
  10. Acharya et al., (2007) BMC Mol. Biol. 8:21 (PMID: 17359525)
  11. Aung et al., (2005) Investigative Ophthalmology & Visual Science 46 (8):2816-22 (PMID: 16043855)
  12. Awadalla et al., (2015) Am. J. Ophthalmol. 159(1):124-30.e1 (PMID: 25284765)
  13. Janssen et al., (2013) Prog Retin Eye Res 37:31-67 (PMID: 24055863)
  14. Kwon et al., (2009) N. Engl. J. Med. 360(11):1113-24 (PMID: 19279343)
  15. Jiang et al., (2013) Mol. Vis. 19:2217-26 (PMID: 24227917)
  16. Vithana et al., (2012) Nat. Genet. 44(10):1142-1146 (PMID: 22922875)
  17. Sun et al., (2017) Prog Retin Eye Res 57:26-45 (PMID: 28039061)
  18. Reis et al., (2011) Curr Opin Ophthalmol 22(5):314-24 (PMID: 21730847)
  19. Micheal et al., (2016) PLoS ONE 11(7):e0159259 (PMID: 27409795)
  20. Schroeder et al., (2014) Clin. Genet. 86(3):292-4 (PMID: 23980586)
  21. Morales et al., (2009) Am. J. Hum. Genet. 85 (5):558-68 (PMID: 19836009)
  22. Sparks et al., (1993-2017) GeneReviews® https://www.ncbi.nlm.nih.gov/books/NBK1291/
  23. Ghoumid et al., (2015) European Journal Of Human Genetics : Ejhg : (PMID: 25898926)
  24. Wieczorek et al., (2009) Am. J. Med. Genet. A 149A (12):2849-54 (PMID: 19938080)
  25. Tsilou et al., (1993-2017) GeneReviews® https://www.ncbi.nlm.nih.gov/books/NBK1114/
  26. Krämer et al., (2000) Eur. J. Hum. Genet. 8(4):286-92 (PMID: 10854112)
  27. White et al., (2000) Hum Mut 15(4):301-8 (PMID: 10737974)
  28. Dyment et al., (2013) American Journal Of Human Genetics 93 (1):158-66 (PMID: 23810382)
  29. Reis et al., (2011) Human Genetics 130 (4):495-504 (PMID: 21340693)
  30. Biswas et al., (2001) Hum. Mol. Genet. 10 (21):2415-23 (PMID: 11689488)
  31. Milani et al., (2015) Ital J Pediatr 41 :4 (PMID: 25599811)
  32. Jamsheer et al,. (2014) Gene 539 (1):157-61 (PMID: 24508941)
  33. Roscioli et al., (2012) Nature Genetics 44 (5):581-5 (PMID: 22522421)
  34. Ghoumid et al. (2016) Eur. J. Hum. Genet. 24 (1):44-50 (PMID: 25898926)
  35. Liu et al., (2011) Exp. Eye Res. 93 (4):331-9 (PMID: 21871452)
  36. Huang et al. (2014) Investigative Ophthalmology & Visual Science 55 (6):3594-602 (PMID: 24825108)
  37. Bosley et al. (2011) Mol. Vis. 17 :1074-9 (PMID: 21552501)
  38. Reynier et al. (2004) J. Med. Genet. 41 (9):e110 (PMID: 15342707)
  39. Godfrey et al. (2011) Cur Op In Genet & Dev 21 (3):278-85 (PMID: 21397493)
  40. Draptchinskaia et al. (1999) Nature Genetics 21 (2):169-75 (PMID: 9988267)
  41. Fratter et al. (2011) Neurology 76 (23):2032-4 (PMID: 21646632)
  42. Chen et al. (2014) Genomics Proteomics Bioinformatics 12 (5):221-7 (PMID: 25462154)
  43. Zrhidri et al. (2017) Gene 628 :190-193 (PMID: 28694206)
  44. Yariz et al. (2015) Clin. Genet. 87 (2):192-5 (PMID: 24702266)
  45. Meyer et al. (2010) Mol. Vis. 16 :650-64 (PMID: 20405026)
  46. Kimura et al. (2003) Arch. Ophthalmol. 121 (3):351-6 (PMID: 12617705)
  47. Crowley et al. (2014) Doc Ophthalmol 129 (1):57-63 (PMID: 24859690)
  48. Kuchtey et al. (2013) Am. J. Med. Genet. A 161A (4):880-3 (PMID: 23444230)
  49. Ali et al. (2009) American Journal Of Human Genetics 84 (5):664-71 (PMID: 19361779)
  50. Medina-Trillo et al. (2015) PLoS ONE 10 (3):e0119272 (PMID: 25786029)
  51. Iseri et al. (2009) Human Mutation 30 (10):1378-86 (PMID: 19708017)
  52. Yokoi et al. (2016) Hum Genome Var 3 :15052 (PMID: 27081561)
Mito Genome Sequencing & Deletion Testing

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Next-Gen Sequencing

Ordering

554
4 weeks
Tissue Biopsy (>50 mg Muscle or Liver-Flash Frozen)
2-5 mL Blood - Lavender Top Tube|Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81460x1, 81465x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Oliveira et al., (2005) Dev Med Child Neurol 47:185-189.
  2. Zhu et al., (2009) Acta Biochim Biophys Sin 41:179-187
  3. Chinnery, P. Gene Reviews (2006) Mitochondrial Disorders Overview.
  4. Tarnopolsky, M and Raha S. (2005) Med Sci Sports Exerc 37:2086-93.
  5. van Adel, B. and Tarnopolsky, M. (2009) J Clin Neuromusc Dis 10:97-121.
  6. Longo, N. (2003) Neurol Clin N Am 21:817- 831.
  7. Bennett S.(2004) Pharmacogenomics 5:433-8.
  8. Chinnery, P. Gene Reviews (2006) Mitochondrial Disorders Overview.
  9. Koenig MK. (2008) Pediatr Neurol, 38:305-313.
  10. Zeviani1 and Di Donato. (2004) Brain, 127: 2153–2172.
Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel

Forms and Documents

Test Details

ACO2, AUH, C12ORF65, CLPB, DGUOK, DNA2, DNAJC19, DNM1L, EARS2, FH, GYG2, ISCA2, MFF, MFN2, MGME1, MTFMT, MTO1, MTPAP, NARS2, NDUFAF3, NR2F1, OPA1, OPA3, PDHX, PDSS1, POLG, POLG2, RNASEH1, RRM2B, SLC19A2, SLC19A3, SLC25A4, SLC25A46, SPG7, SUCLA2, TACO1, TIMM8A, TK2, TMEM126A, TSFM, TWNK, TYMP, VARS2, WFS1
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

577
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1, 81405x2, 81406x2, 81407x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Yu-Wai-Man et al. (2011) Prog Retin Eye Res 30 (2):81-114 (PMID: 21112411)
  2. Oliveira et al. (2005) Dev Med Child Neurol 47 (3):185-9 (PMID: 15739723)
  3. Chinnery P. Mitochondrial Disorders Overview 2000 Jun 8 [Updated 2014 Aug 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.n
  4. van Adel et al. (2009) Journal Of Clinical Neuromuscular Disease 10 (3):97-121 (PMID: 19258857)
  5. Zhu et al. (2009) Acta Biochim. Biophys. Sin. (Shanghai) 41 (3):179-87 (PMID: 19280056)
  6. Fratter et al. (2011) Neurology 76 (23):2032-4 (PMID: 21646632)
  7. Milone et al. (2010) Neurologist 16 (2):84-91 (PMID: 20220442)
  8. Stewart et al. (2008) Neurology 71 (22):1829-31 (PMID: 19029523)
  9. Spiegel et al. (2012) American Journal Of Human Genetics 90 (3):518-23 (PMID: 22405087)
  10. Pilz et al. (2017) J Optom 10 (4):205-214 (PMID: 28040497)
Stargardt Sequencing Panel

Forms and Documents

Test Details

ABCA4, ELOVL4, RDS (PRPH2)
  • Confirmation of a clinical diagnosis
  • Determine if a sporadic case is recessive or dominant (de novo)
  • Carrier testing for family members of an affected individual with known mutation(s)
  • Prenatal diagnosis in at-risk pregnancies
  • Presymptomatic testing
  • Next-Gen Sequencing

Ordering

466
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1 , 81408x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.54 Congenital folds and cysts of posterior segment
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. Guymer et al., (2001) Arch Ophthalmol 119(5):745-51
  2. Gamundi MJ et al., (2007) Mol Vision 13:1031–1037
  3. Boon CJ et al., (2008) Prog Retin Eye Res 27:213-35
  4. Dryja et al., (1997) Invest Ophthalmol Vis Sci 38:1972–82
  5. Zhang et al., (2001) Nat Genet 27:89-93
  6. Bernstein et al., (2001) Invest Ophthal Vis Sci 42: 3331-3336
  7. Yatsenko et al, (2003) Hum Mutat 21(6):636-44
  8. Boon CJ et al., (2007) Br J Ophthalmol 91:1504-11
  9. Maugeri et al., (2004) Invest Ophthal Vis Sci 45:4263-4267
  10. Edwards et al., (1999) Am J Ophthalmol 127:426- 435
  11. Valverde et al., (2006) Mol Vis 12:902-908 19.Valverde D et al., (2007) Invest Ophthal Vis Sci 48:985-990
  12. Aleman et al., Invest Ophthalmol Vis Sci 48(3):1319-29
  13. Maugeri et al., (1999) Am J Hum Genet 64:1024-1035
  14. Klevering et al., (2005) Graefes Arch Clin Exp Ophthalmol 243(2):90-100
  15. Wiszniewski W et al., (2005) Hum Mol Genet 1:14(19):2769-78
  16. Rozetet al., (1998) Eur J Hum Genet 6(3):291-5
  17. Klevering et al., (2004) Eur J Hum Genet 12(12):1024-32
  18. Jaakson et al., (2003) Hum Mut 22:395-403
  19. Yatsenkoet al., (2001) Hum Genet 108:(4)346-55
  20. Rivera A et al., (2000) Am J Hum Genet 67:800-813
  21. Shroyer et al., (2001) Hum Molec Genet 10:2671-2678
  22. Allikmets et al., (2000) Am J Hum Genet 67:793-799
  23. Lewis et al., (1999) Am J Hum Genet 64:422-434
  24. De La Paz et al., (1999) Ophthalmology 106:1531-1536
  25. Stone EM et al., (1998) Nat Genet 20:328-329
  26. Cremers et al., (1998) Hum Molec Genet 7:355-362
  27. Allikmets et al., (1998) Gene 215: 111-122
  28. Allikmets et al., (1997) Science 19;277(5333):1805-7
Usher Syndrome Panel

Forms and Documents

Test Details

ADGRV1 (GPR98), CDH23, CLRN1, DFNB31 (WHRN), MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A
  • Congenital deafness and/or moderate to severe hearing loss
  • Problems with balance
  • Decreased night vision
  • Retinitis pigmentosa
  • Next-Gen Sequencing
  • Exon Array Dx

Ordering

T006
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab

Billing

81404x2; 81407x1; 81408x2
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Saihan et al., (2009) Curr Opin Neurol 22:19-27 (PMID: 19165952)
  2. Yan et al., (2010) J Hum Genet 55:327-335 (PMID: 20379205)
  3. Millan et al., (2011) J Ophthalmol Volume 2011:1-8 (PMID: 21234346)
  4. Adato et al., (2002) Eur J Hum Genet 10:339-350 (PMID: 12080385)
  5. Bitner-Glindzicz et al., (2000) Nat Genet 26:56-60 (PMID: 10973248)
  6. Roux et al., (2006) J Med Genet 43:763-768 (PMID: 16679490)
  7. Adato et al., (1997) Am J Hum Genet 61:813-821 (PMID: 9382091)
  8. Hilgert et al., (2009) J Hum Med Genet 46:272-276 (PMID: 19357116)
  9. Bennett et al., (2004) Pharmacogenomics 5:433-8 (PMID: 15165179)
  10. Pieke Dahl et al., (1996 ) J Med Genet 33:753-7 (PMID: 8880575)
  11. Weston et al., 2000 Am J Hum Genet 66:1199-210 (PMID: 10729113)
  12. van Wijk et al., (2004) Am J Hum Genet 74:738-744 (PMID: 15015129)
  13. Aller et al., (2010) Invest Ophthalmol and Vis Sci 51(11):5480-5485 (PMID: 20538994)
  14. Roux et al., (2011) Invest Ophthalmol Vis Sci. 8;52(7):4063-71 (PMID: 21436283)
  15. Besnard et al., (2012) Hum Mutat 33(3):504-10 (PMID: 22147658)
  16. Ebermann et al., (2010) The Journal of Clinical Investigation 120(6):1812-23 (PMID: 20440071)
65 mtDNA Point Mutations plus Large Deletions Panel

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder

65 confirmed disease-causing mtDNA point variants (see list in Test Info Sheet) and large scale deletion analysis of the mitochondrial genome (including LHON [20 mutations], MELAS [16 mutations], LS/NARP [22 mutations], MIHL/MIDM [10 mutations)] MERRF [6 mutations], KSS, CPEO, Pearson syndrome, etc.)

  • Next-Gen Sequencing

Ordering

704
3-4 weeks
Tissue Biopsy (>50 mg Muscle or Liver-Flash Frozen)
2-5 mL Blood - Lavender Top Tube|Oral Rinse (30-40 mL)

Billing

81401x2, 81465x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Longo, N. (2003) Neurol Clin N Am 21:817-831.
  2. Majamaa et al., (1998) Am J Hum Genet 63:447-454.
  3. Goto et al., (1991) Biochim Biophys Acta 1097:238-40.
  4. Mackey et al., (1996) Am J Hum Genet 59:481-485.
  5. Taylor et al., (2003) J Am Coll Cardiol 41:1786-96.
  6. DiMauro, S. Gene Reviews (2005) MERRF.
  7. Thorburn, D. Gene Reviews (2006) Mitochondrial DNA-Associated Leigh Syndrome and NARP.
  8. DiMauro, S. Gene Reviews (2005) MELAS.
  9. Yu-Wai-Man, P and Chinnery, P. Gene Reviews (2008) Leber Hereditary Optic Neuropathy.
  10. Macmillan et al., (1998) Neurology 50:417-22.
  11. Crispim et al., (2008) Arq Bras Endocrinol Metab 52:1228-1235.
  12. Zhu et al., (2009) Acta Biochim Biophys Sin 41:179-187.
  13. Chinnery, P. Gene Reviews (2006) Mitochondrial Disorders Overview.
  14. Bennett S.(2004) Pharmacogenomics 5:433-8
  15. MITOMAP: A Human Mitochondrial Genome Database. http://www.mitomap.org, 2008.
  16. Achilli et al., (2012) PLoS One 7:e42242.
  17. Pulkes et al., (1999) Ann Neurol 46:916-9.
  18. DiMaruo, S. and Hirano, M. (Updated [May 3, 2011]). Mitochondrial DNA Deletion Syndromes In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2012. Available at http://w
  19. Jeppesen TD,et al. (2003) Ann Neurol 54(1):86-92.
  20. Moraes et al., (1989) N Engl J Med 18:1293-9.
  21. Chinault et al., Genet Med (2009)11:518-526
  22. Uusimaa et al., (2000) Pediatrics 105:598-603
  23. Remes et al., (2005) Neurology 64:976-981
  24. Darin et al., (2001) Ann Neurol 49:377-383
  25. Wong, L. and Senadheera, D. (1997) Clin Chem 43:1857-1861
  26. Jaksch et al., (2001) J Med Genet 38:665-673

Single Gene Eye Disorder Tests

AIPL1 Gene Sequencing

Forms and Documents

Test Details

AIPL1
  • Confirmation of a clinical diagnosis
  • To differentiate LCA from other forms of retinal dystrophy
  • recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

379
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. )Koenekoop R (2007) Clin and Experimental Ophthalmology 35:473-485
  2. Browne SJ (2006) Invest Ophthalmol Vis Sci 47(1):34-42
  3. den Hollander AI (2006) Am J Hum Genet 79(3):556-61
  4. Ito S (2004) Invest Ophthalmol Vis Sci 45(5):1480-5
  5. Sohocki (2000) Mol. Genet. Metab. 70, 142–150
  6. Bernal S (2003) J Med Genet 40:e89
  7. den Hollander AI (2008) Progress in Retinal and Eye Research 27:391-419
  8. Hanein S (2004) Hum Mutat 23:306-317
  9. Booij J (2007) J Med Genet 42:67-75
  10. Stone E (2007) Am J Ophthalmol 144(6):791-811
  11. Koenekoop (2005) Ophthalmic Genetics 26:175-179
  12. Morimura H (1998) Proc Natl Acad Sci 95:3088–3093
  13. den Hollander (2001) Am J Hum Genet 69:198–203
  14. )den Hollander (2004) Hum Mutat 24:355-69
  15. den Hollander (1999) Nat Genet 23:217–221
BCOR Gene Sequencing & Del/Dup

Forms and Documents

Test Details

BCOR
  • Confirmation of a clinical diagnosis
  • Mutation-specific testing of family members of an affected individual with known mutation(s)
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

3693
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 743.4 Coloboma and other anomalies of anterior segment
  • 743 Congenital anomalies of eye
  • 743.1 Microphthalmos, Dysplasia of eye, Hypoplasia of eye, Rudimentary eye
  • 759.7 Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
* For price inquiries please email zebras@genedx.com

References

  1. 1) Hilton et al (2009) Eur J Hum Genet 1-11.
  2. 2) Horn et al (2005) Eur J Hum Genet 13: 563-569.
  3. 3) Martinez-Garay et al (2007) Eur J Hum Genet 15:29-34.
  4. 4) Ng et al (2004) Nat Genet 36;4:411-416.
BCOR P85L Mutation

Forms and Documents

Test Details

BCOR
  • Confirmation of a clinical diagnosis
  • Mutation-specific testing of family members of an affected individual with known mutation(s)
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

370
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 743.4 Coloboma and other anomalies of anterior segment
  • 743 Congenital anomalies of eye
  • 743.1 Microphthalmos, Dysplasia of eye, Hypoplasia of eye, Rudimentary eye
  • 759.7 Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
* For price inquiries please email zebras@genedx.com

References

  1. Ng et al (2004) Nat Genet 36;4:411-416.
  2. Martinez-Garay et al (2007) Eur J Hum Genet 15:29-34.
  3. Horn et al (2005) Eur J Hum Genet 13: 563-569.
  4. Hilton et al (2009) Eur J Hum Genet 1-11.
BEST1 Gene Sequencing

Forms and Documents

Test Details

BEST1
  • Confirmation of clinical diagnosis
  • To differentiate different type of Bestrophinopathies and other types of macular degeneration
  • Pre-symptomatic testing
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

403
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
  • 743.55 Congenital macular changes
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
* For price inquiries please email zebras@genedx.com

References

  1. Lafaut et al., (2001) Arch Clin Exp Ophthalmol 239:575-582
  2. Seddon et al., (2001) Ophthalmology 108:2060-2067
  3. White et al., (2000) Hum Mutat 15:301-308
  4. Yardley et al., (2004) Invest Ophthalmol Vis Sci 45:3683-3689
  5. Kramer et al., (2000) Eur J Hum Genet 8:286-292
  6. Kramer et al., (2003) Hum Mutat Mutation in Brief #660 Online
  7. Burgess et al., (2009) J Med Genet 46:620-625
  8. Davidson et al., (2009) Am J Hum Genet 85:581-592
  9. Burgess et al., (2008) Am J Hum Genet 82:19-31
  10. Boon et al., (2009) Progress in Retinal and Eye Research 28:187-205
CABP4 Gene Sequencing

Forms and Documents

Test Details

CABP4
  • Confirmation of a clinical diagnosis.
  • Development of an appropriate management plan.
  • Prenatal diagnosis in families with a defined mutation.
  • Capillary Sequencing

Ordering

590
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 368.61 Congenital night blindness, Hereditary night blindness, Oguchi's disease
* For price inquiries please email zebras@genedx.com

References

  1. Naeem MA et al., (2012) Invest Ophthalmol Vis Sci 53(3):1353-61
  2. Szabo V et al., (2007) Hum Mutat 28(7):741-2
  3. Dryja et al., (1993) Nat Genet 4:280-283
  4. al-Jandal et al., (1999) Human Mutation 13:75-81
  5. Yamamoto H et al., (1999) Nat Genet 22:188-91
  6. Nakamura et al. (2003) Doc Ophthalmol 107(1):3-11
  7. Nakamura et al., (2000) Invest Ophthalmol Vis Sci 41(12):3925-32
  8. Yamamoto et al., (1997) Nat Genet 15(2):175-178
  9. Nakamura et al., (2004) American Academy of Ophthalmology 111(7):1410-1414
  10. Dryja et al., (1996) Nat Genet 13(3):358-60
  11. Zeitz C (2006) Am J Hum Genet 79(4):657-67
  12. Zeitz C (2005) Invest Ophthalmol Vis Sci 46(11):4328-35
  13. Pusch et al., (2000) Nat Genet 26:324-327
  14. Xiao et al., (2006) J Hum Genet 51:634-640
  15. Bech-Hansen et al., (2000) Nat Genet 26: 319- 323
  16. Li et al., (2009) Am J Hum Genet 85:711-719
  17. Audo et al., (2009) Am J Hum Genet 85: 720-729
  18. van Genderen et al., (2009) Am J Hum Genet 85: 730-736
  19. Fuchs et al., (1995) Nat Genet 10:360-362
  20. Nakazawa et al., (1998) Arch Ophthalmol 116:498-501
CACNA1F Gene Sequencing

Forms and Documents

Test Details

CACNA1F
  • Confirmation of a clinical diagnosis.
  • Development of an appropriate management plan.
  • Prenatal diagnosis in families with a defined mutation.
  • Capillary Sequencing

Ordering

587
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 368.61 Congenital night blindness, Hereditary night blindness, Oguchi's disease
* For price inquiries please email zebras@genedx.com

References

  1. Xiao et al., (2006) J Hum Genet 51:634-640
  2. Bech-Hansen et al., (2000) Nat Genet 26: 319- 323
  3. Pusch et al., (2000) Nat Genet 26:324-327
  4. Li et al., (2009) Am J Hum Genet 85:711-719
  5. Audo et al., (2009) Am J Hum Genet 85: 720-729
  6. van Genderen et al., (2009) Am J Hum Genet 85: 730-736
  7. Fuchs et al., (1995) Nat Genet 10:360-362
  8. Nakazawa et al., (1998) Arch Ophthalmol 116:498-501
  9. Nakamura et al., (2004) American Academy of Ophthalmology 111(7):1410-1414
  10. Yamamoto et al., (1997) Nat Genet 15(2):175-178
  11. Nakamura et al., (2000) Invest Ophthalmol Vis Sci 41(12):3925-32
  12. Nakamura et al. (2003) Doc Ophthalmol 107(1):3-11
  13. Yamamoto H et al., (1999) Nat Genet 22:188-91
  14. al-Jandal et al., (1999) Human Mutation 13:75-81
  15. Dryja et al., (1993) Nat Genet 4:280-283
  16. Szabo V et al., (2007) Hum Mutat 28(7):741-2
  17. Naeem MA et al., (2012) Invest Ophthalmol Vis Sci 53(3):1353-61
  18. Dryja et al., (1996) Nat Genet 13(3):358-60
  19. Zeitz C (2006) Am J Hum Genet 79(4):657-67
  20. Zeitz C (2005) Invest Ophthalmol Vis Sci 46(11):4328-35
CEP290 Hot Spots

Forms and Documents

Test Details

CEP290
  • Confirmation of a clinical diagnosis
  • To differentiate LCA from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

376
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. den Hollander AI (2008) Progress in Retinal and Eye Research 27:391-419
  2. Hanein S (2004) Hum Mutat 23:306-317
  3. Booij J (2007) J Med Genet 42:67-75
  4. Stone E (2007) Am J Ophthalmol 144(6):791-811
  5. Koenekoop R (2007) Clin and Experimental Ophthalmology 35:473-485
  6. Browne SJ (2006) Invest Ophthalmol Vis Sci 47(1):34-42
  7. den Hollander AI (2006) Am J Hum Genet 79(3):556-61
  8. Ito S (2004) Invest Ophthalmol Vis Sci 45(5):1480-5
  9. Sohocki (2000) Mol. Genet. Metab. 70, 142–150
  10. Bernal S (2003) J Med Genet 40:e89
  11. den Hollander (1999) Nat Genet 23:217–221
  12. den Hollander (2004) Hum Mutat 24:355-69
  13. den Hollander (2001) Am J Hum Genet 69:198–203
  14. Morimura H (1998) Proc Natl Acad Sci 95:3088–3093
  15. Koenekoop (2005) Ophthalmic Genetics 26:175-179
CERKL Gene Sequencing

Forms and Documents

Test Details

CERKL
  • Confirmation of a clinical diagnosis
  • Determine if a sporadic case is recessive or dominant (de novo)
  • Carrier testing for family members of an affected individual with known mutation(s)
  • Prenatal diagnosis in at-risk pregnancies
  • Presymptomatic testing
  • Genetic counseling
  • Capillary Sequencing

Ordering

506
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. Thiadens et al., (2010) Ophthalmology 117(4):825- 30
  2. Kitiratschky et al., (2008) Invest Ophthalmol Vis Sci 49:5015
  3. Hamel CP et al., (2007) Orphanet J Rare Dis (1)2:7
  4. Rivolta C et al., (2001) Hum Mutat 18: 488-498
  5. Freund CL et al., (1997) Cell. 91(4):543- 553
  6. Lotery AJ (2000) Arch Ophthalmol]. 118(4):538-43
  7. Sohocki et al., (2000) Mol Genet Metab 70:142–150
  8. Boon CJ et al., (2008) Prog Retin Eye Res 27:213-35
  9. Allikmets, et al (1998) Gene 215: 111-122
  10. Cremers F P M et al., (1998) Hum Molec Genet 7: 355-362
  11. Wissinger et al., (2001) Am J Hum Genet 69:722-737
  12. Klevering B J et al., (2004) Eur J Hum Genet.12(12):1024-32
  13. Downes et al., (2001) Arch Ophthalmol 119:96-105
  14. Michaelides et al., (2005) Ophthalmology 112:1442-1447
  15. Kitiratschy et al., (2009) Human Mutation 30:E782-E796
  16. Littink et al., (2010) Invest Ophthalmol Vis Sci 51(11):5943-5951
  17. Wissinger et al., (2001) Am J Hum Genet 69:722-737
CHM Gene Sequencing

Forms and Documents

Test Details

CHM
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

296
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 743.5 Congenital anomalies of posterior segment
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. McTaggart KE, Tran M, Mah DY, Lai SW, Nesslinger NJ, MacDonald IM. Mutational analysis of patients with the diagnosis of choroideremia. Hum Mutat. 2002 Sep;20(3):189-96.
  2. http://www.retina-international.org/sci-news/repmut.htm
  3. Smaoui N, T.L. McGee, N. Nwokekeh, C.Weigel-DiFranco, B. Rosner, J.F. Hejtmancik, E.L. Berson Mutation Spectrum of the CHM Gene in Patients With Choroideremia. ARVO May 6-10, 2007 Fort Lauderdale, Florida.
  4. Genetic Diseases of the Eye. Ed. Elias I. Traboulsi. New York and Oxford: Oxford University Press, 1998.
  5. Cremers FP, van de Pol DJ, van Kerkhoff LP, Wieringa B, Ropers HH (1990) Cloning of a gene that is rearranged in patients with choroideraemia. Nature 347:674-7.
CNGA1 Gene Sequencing

Forms and Documents

Test Details

CNGA1
  • Confirmation of a clinical diagnosis
  • To differentiate ARRP, adRP, and X-linked RP from other forms of retinal dystrophy and retinal degeneration
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

417
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.54 Congenital folds and cysts of posterior segment
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. Danciger M et al., (1996) Mol Vis 2:10
  2. den Hollander et al., (1999) Nat Genet 23:217–221
  3. den Hollander et al., (2001) Am J Hum Genet 69:198–203
  4. den Hollander et al., (2004) Hum Mutat 24:355-69
  5. Dreyer B et al., (2001) Am J Hum Genet 69:228-34
  6. Dreyer B et al., (2008) Hum Mutat 29:451
  7. Hanein S et al., (2004) Hum Mutat 23:306-17
  8. Huang SH et al., (1995) Nat Genet 11:468-71
  9. Lotery et al., (2001) Ophthalmic Genet 22:163-9
  10. McLaughlin ME et al., (1993) Nat Genet 4:130-4
  11. McLaughlin ME et al., (1995) Proc Natl Acad Sci 11;92:3249-53
  12. Morimura H et al., (1998) Proc Natl Acad Sci 95:3088–3093
  13. Pieke Dahl S et al., (1996 ) J Med Genet 33:753-7
  14. Rivolta C et al., (2000) Am J Hum Genet 66:1975–78
  15. Sandberg MA et al., (2008) Invest Ophthalmol Vis Sci 49:5532-9
  16. Seyedahmadi et al, (2004) Exp Eye Res 79:167-73
  17. Stone E (2007) Am J Ophthalmol 144:791-811
  18. Valverde D et al., (1996) Hum Mutat 8(4):393-4
  19. Weston et al., 2000 Am J Hum Genet 66:1199-210
  20. Wiszniewski W et al., (2005) Hum Mol Genet 1;14:2769-78
  21. Dryja et al., (1995) Proc. Natl Acad Sci 92:10177-10181
  22. Zhang et al., (2004) Mol Vis 10:884-889
  23. Paloma et al., (2002) J Med Genet 39:1-4
  24. Dryja TP et al., (1999) Invest Ophthalmol Vis Sci 40:1859-1865
  25. Danciger M et al., (1995) Genomics 1;30(1):1-7
  26. Collin RWJ (2009) ARVO meeting, May3-7, Fort Lauderdale, FL
  27. Collin RWJ et al., (2008) Am J Hum Genet 83:594-603
  28. Cremers FPM et al., (1998) Hum Molec Genet 7:355-362
  29. Booij JC (2005) J Med Genet 42:e67
  30. Bo Dreyer (2008) Hum Mutat 29:451
  31. Bernal S et al., (2003) J Med Genet 40:e89
  32. Bennett S et al., (2004) Pharmacogenomics 5:433-8
  33. Allikmets et al., (1998) Gene 215: 111- 122
  34. Abd El-Aziz MM et al., (2008) Nat Genet 40:1285-7
  35. Abd El-Aziz MM et al., (2007) Ann Hum Genet 71:281-94
CNGA3 Gene Sequencing

Forms and Documents

Test Details

CNGA3
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

514
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 368.54 Achromatopsia Monochromatism (cone) (rod)
* For price inquiries please email zebras@genedx.com

References

  1. Kolh et al., (2000) Hum Mol Genet 9:2107-2116
  2. Kohl et al., (2005) Eur J Him Genet 13:302-308
  3. Thiadens et al., (2010) Ophthalmology 117:825-830
  4. Wiszniewski et al., (2007) Hum Genet 121:433-439
  5. Sundin et al., (2000) Nat Genet 25:289-293
CNGB3 Gene Sequencing

Forms and Documents

Test Details

CNGB3
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

513
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 368.54 Achromatopsia Monochromatism (cone) (rod)
* For price inquiries please email zebras@genedx.com

References

  1. Thiadens et al., (2010) Ophthalmology 117:825-830
  2. Kohl et al., (2005) Eur J Him Genet 13:302-308
  3. Kolh et al., (2000) Hum Mol Genet 9:2107-2116
  4. Sundin et al., (2000) Nat Genet 25:289-293
  5. Wiszniewski et al., (2007) Hum Genet 121:433-439
CRB1 Gene Sequencing

Forms and Documents

Test Details

CRB1
  • Confirmation of a clinical diagnosis
  • To differentiate LCA from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

378
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. den Hollander AI (2008) Progress in Retinal and Eye Research 27:391-419
  2. Hanein S (2004) Hum Mutat 23:306-317
  3. Booij J (2007) J Med Genet 42:67-75
  4. Stone E (2007) Am J Ophthalmol 144(6):791-811
  5. Koenekoop R (2007) Clin and Experimental Ophthalmology 35:473-485
  6. Browne SJ (2006) Invest Ophthalmol Vis Sci 47(1):34-42
  7. den Hollander AI (2006) Am J Hum Genet 79(3):556-61
  8. Ito S (2004) Invest Ophthalmol Vis Sci 45(5):1480-5
  9. den Hollander (2004) Hum Mutat 24:355-69
  10. Koenekoop (2005) Ophthalmic Genetics 26:175-179
  11. Morimura H (1998) Proc Natl Acad Sci 95:3088–3093
  12. den Hollander (2001) Am J Hum Genet 69:198–203
  13. den Hollander (1999) Nat Genet 23:217–221
  14. Sohocki (2000) Mol. Genet. Metab. 70, 142–150
  15. Bernal S (2003) J Med Genet 40:e89
CRX Gene Sequencing

Forms and Documents

Test Details

CRX
  • Confirmation of a clinical diagnosis
  • Determine if a sporadic case is recessive or dominant (de novo)
  • Carrier testing for family members of an affected individual with known mutation(s)
  • Prenatal diagnosis in at-risk pregnancies
  • Presymptomatic testing
  • Capillary Sequencing

Ordering

353
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.54 Congenital folds and cysts of posterior segment
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. Michaelides et al., (2005) Ophthalmology 112:1442-1447
  2. Kitiratschy et al., (2009) Human Mutation 30:E782-E796
  3. Downes et al., (2001) Arch Ophthalmol 119:96-105
  4. Klevering B J et al., (2004) Eur J Hum Genet.12(12):1024-32
  5. Cremers F P M et al., (1998) Hum Molec Genet 7: 355-362
  6. Allikmets, et al (1998) Gene 215: 111-122
  7. Boon CJ et al., (2008) Prog Retin Eye Res 27:213-35
  8. Sohocki et al., (2000) Mol Genet Metab 70:142–150
  9. Lotery AJ (2000) Arch Ophthalmol]. 118(4):538-43
  10. Freund CL et al., (1997) Cell. 91(4):543- 553
  11. Rivolta C et al., (2001) Hum Mutat 18: 488-498
  12. Hamel CP et al., (2007) Orphanet J Rare Dis (1)2:7
  13. Kitiratschky et al., (2008) Invest Ophthalmol Vis Sci 49:5015
FOXC1 Gene Sequencing

Forms and Documents

Test Details

FOXC1
  • Confirmation of a clinical diagnosis
  • Recurrence risk calculation
  • Prenatal diagnosis in families with known mutation
  • Capillary Sequencing

Ordering

1342
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
* For price inquiries please email zebras@genedx.com

References

  1. Mears et al. (1998) Am J Hum Genet 63:1316-1318
  2. Nishimura et al. (2001) American Journal of Human Genetics 68(2):364-372
  3. Priston et al. (2001) Human Molecular Genetics 10(16):1631-1638
  4. Perveen et al. (2000) Invest Ophthalmol Vis Sci.41(9):2456-2460
  5. Lines et al. (2004) Invest Ophthalmol Vis Sci.Science 45(3):828-833
  6. Hjalt et al. (2005) Expert Reviews in Molecular Medicine 7(25)1-15
  7. Semina et al. (1996) Nat Genet 14:392-399
FOXE3 Gene Sequencing

Forms and Documents

Test Details

FOXE3
  • Confirmation of a clinical diagnosis
  • Carrier detection in families with a recessive pattern of inheritance
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

604
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
* For price inquiries please email zebras@genedx.com

References

  1. Semina et al., (2001) Human Molecular Genetics. 10(3):231-236.
  2. Reis et al., (2010) Am J Med Genet. 152A(3)582-590.
  3. Bremond-Gignac et al., (2010) Molecular Vision. 16:1705-1711.
  4. Ali et al., (2010) Molecular Vision. 16:1162-1168.
  5. Doucette et al., (2011) European Journal of Human Genetics. 19:293-299.
  6. Iseri et al., (2009) Human Mutation. 30(10): 1378-1386.
FRMD7 Gene Sequencing

Forms and Documents

Test Details

FRMD7
  • Confirmation of a clinical diagnosis
  • Differentiating FRMD7-related CIN from other genetic and non-genetic forms of nystagmus
  • Development of an appropriate management plan
  • Carrier testing
  • Capillary Sequencing

Ordering

432
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 379.51 Congenital nystagmus
  • 379.5 Nystagmus and other irregular eye movements
* For price inquiries please email zebras@genedx.com

References

  1. Tarpey et al., (2006) Nat Genet 38:1242-1244
  2. Thomas MG et al., (2009) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle Feb 12
  3. Self J et al., (2007) Ophthalmic Genet 28(4):187-91
  4. Mellot et al., (1999) Arch Ophthalmol 117:1630-33
  5. Shiels et al., (2007) Molec Vis 13:2233-2241
GNAT1 Gene Sequencing

Forms and Documents

Test Details

GNAT1
  • Confirmation of a clinical diagnosis.
  • Development of an appropriate management plan.
  • Prenatal diagnosis in families with a defined mutation.
  • Capillary Sequencing

Ordering

589
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 368.61 Congenital night blindness, Hereditary night blindness, Oguchi's disease
* For price inquiries please email zebras@genedx.com

References

  1. Nakamura et al., (2000) Invest Ophthalmol Vis Sci 41(12):3925-32
  2. Nakamura et al. (2003) Doc Ophthalmol 107(1):3-11
  3. Yamamoto H et al., (1999) Nat Genet 22:188-91
  4. Zeitz C (2005) Invest Ophthalmol Vis Sci 46(11):4328-35
  5. Zeitz C (2006) Am J Hum Genet 79(4):657-67
  6. Dryja et al., (1996) Nat Genet 13(3):358-60
  7. Naeem MA et al., (2012) Invest Ophthalmol Vis Sci 53(3):1353-61
  8. Szabo V et al., (2007) Hum Mutat 28(7):741-2
  9. Dryja et al., (1993) Nat Genet 4:280-283
  10. al-Jandal et al., (1999) Human Mutation 13:75-81
  11. Yamamoto et al., (1997) Nat Genet 15(2):175-178
  12. Nakamura et al., (2004) American Academy of Ophthalmology 111(7):1410-1414
  13. Nakazawa et al., (1998) Arch Ophthalmol 116:498-501
  14. Fuchs et al., (1995) Nat Genet 10:360-362
  15. van Genderen et al., (2009) Am J Hum Genet 85: 730-736
  16. Audo et al., (2009) Am J Hum Genet 85: 720-729
  17. Li et al., (2009) Am J Hum Genet 85:711-719
  18. Bech-Hansen et al., (2000) Nat Genet 26: 319- 323
  19. Xiao et al., (2006) J Hum Genet 51:634-640
  20. Pusch et al., (2000) Nat Genet 26:324-327
GRM6 Gene Sequencing

Forms and Documents

Test Details

GRM6
  • Confirmation of a clinical diagnosis.
  • Development of an appropriate management plan.
  • Prenatal diagnosis in families with a defined mutation.
  • Capillary Sequencing

Ordering

588
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 368.61 Congenital night blindness, Hereditary night blindness, Oguchi's disease
* For price inquiries please email zebras@genedx.com

References

  1. Nakamura et al., (2000) Invest Ophthalmol Vis Sci 41(12):3925-32
  2. Yamamoto et al., (1997) Nat Genet 15(2):175-178
  3. Nakazawa et al., (1998) Arch Ophthalmol 116:498-501
  4. Fuchs et al., (1995) Nat Genet 10:360-362
  5. van Genderen et al., (2009) Am J Hum Genet 85: 730-736
  6. Audo et al., (2009) Am J Hum Genet 85: 720-729
  7. Li et al., (2009) Am J Hum Genet 85:711-719
  8. Bech-Hansen et al., (2000) Nat Genet 26: 319- 323
  9. Xiao et al., (2006) J Hum Genet 51:634-640
  10. Nakamura et al., (2004) American Academy of Ophthalmology 111(7):1410-1414
  11. Pusch et al., (2000) Nat Genet 26:324-327
  12. Nakamura et al. (2003) Doc Ophthalmol 107(1):3-11
  13. Yamamoto H et al., (1999) Nat Genet 22:188-91
  14. al-Jandal et al., (1999) Human Mutation 13:75-81
  15. Dryja et al., (1993) Nat Genet 4:280-283
  16. Szabo V et al., (2007) Hum Mutat 28(7):741-2
  17. Naeem MA et al., (2012) Invest Ophthalmol Vis Sci 53(3):1353-61
  18. Dryja et al., (1996) Nat Genet 13(3):358-60
  19. Zeitz C (2006) Am J Hum Genet 79(4):657-67
  20. Zeitz C (2005) Invest Ophthalmol Vis Sci 46(11):4328-35
GUCA1A Gene Sequencing

Forms and Documents

Test Details

GUCA1A
  • Confirmation of a clinical diagnosis
  • To differentiate LCA from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

476
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. Cremers F P M et al., (1998) Hum Molec Genet 7: 355-362
  2. Klevering B J et al., (2004) Eur J Hum Genet.12(12):1024-32
  3. Sohocki et al., (2000) Mol Genet Metab 70:142–150
  4. Boon CJ et al., (2008) Prog Retin Eye Res 27:213-35
  5. Allikmets, et al (1998) Gene 215: 111-122
  6. Freund CL et al., (1997) Cell. 91(4):543- 553
  7. Lotery AJ (2000) Arch Ophthalmol]. 118(4):538-43
  8. Rivolta C et al., (2001) Hum Mutat 18: 488-498
  9. Kitiratschky et al., (2008) Invest Ophthalmol Vis Sci 49:5015
  10. Hamel CP et al., (2007) Orphanet J Rare Dis (1)2:7
  11. Downes et al., (2001) Arch Ophthalmol 119:96-105
  12. Michaelides et al., (2005) Ophthalmology 112:1442-1447
  13. Kitiratschy et al., (2009) Human Mutation 30:E782-E796
  14. Littink et al., (2010) Invest Ophthalmol Vis Sci 51(11):5943-5951
  15. Wissinger et al., (2001) Am J Hum Genet 69:722-737
  16. Wissinger et al., (2001) Am J Hum Genet 69:722-737
  17. Thiadens et al., (2010) Ophthalmology 117(4):825- 30
GUCY2D Gene Sequencing

Forms and Documents

Test Details

GUCY2D
  • Confirmation of a clinical diagnosis
  • To differentiate LCA from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

377
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. Morimura H (1998) Proc Natl Acad Sci 95:3088–3093
  2. Koenekoop (2005) Ophthalmic Genetics 26:175-179
  3. den Hollander AI (2008) Progress in Retinal and Eye Research 27:391-419
  4. Hanein S (2004) Hum Mutat 23:306-317
  5. Booij J (2007) J Med Genet 42:67-75
  6. Stone E (2007) Am J Ophthalmol 144(6):791-811
  7. Koenekoop R (2007) Clin and Experimental Ophthalmology 35:473-485
  8. Browne SJ (2006) Invest Ophthalmol Vis Sci 47(1):34-42
  9. den Hollander AI (2006) Am J Hum Genet 79(3):556-61
  10. Ito S (2004) Invest Ophthalmol Vis Sci 45(5):1480-5
  11. Sohocki (2000) Mol. Genet. Metab. 70, 142–150
  12. Bernal S (2003) J Med Genet 40:e89
  13. den Hollander (1999) Nat Genet 23:217–221
  14. den Hollander (2004) Hum Mutat 24:355-69
  15. den Hollander (2001) Am J Hum Genet 69:198–203
HESX1 Gene Sequencing

Forms and Documents

Test Details

HESX1
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

474
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 377.43 Optic nerve hypoplasia
* For price inquiries please email zebras@genedx.com

References

  1. Thomas et al., (2001) Hum Molec Genet 10: 39-45
  2. Tajima et al., (2003) J Clin Endocr Metab 88: 45-50
  3. Sobrier et al., (2006) J Clin Endocr Metab 91:4528-4536
  4. McNay et al., (2007) J Clin Endocr Metab 92:691-697
  5. Dattani et al., (1998) Nat Genet 19:125-133
IMPDH1 Gene Sequencing

Forms and Documents

Test Details

IMPDH1
  • Confirmation of a clinical diagnosis
  • To differentiate LCA from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

412
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. den Hollander AI (2008) Progress in Retinal and Eye Research 27:391-419
  2. Hanein S (2004) Hum Mutat 23:306-317
  3. Booij J (2007) J Med Genet 42:67-75
  4. Stone E (2007) Am J Ophthalmol 144(6):791-811
  5. Koenekoop R (2007) Clin and Experimental Ophthalmology 35:473-485
  6. Browne SJ (2006) Invest Ophthalmol Vis Sci 47(1):34-42
  7. den Hollander AI (2006) Am J Hum Genet 79(3):556-61
  8. Ito S (2004) Invest Ophthalmol Vis Sci 45(5):1480-5
  9. Sohocki (2000) Mol. Genet. Metab. 70, 142–150
  10. Bernal S (2003) J Med Genet 40:e89
  11. den Hollander (1999) Nat Genet 23:217–221
  12. den Hollander (2004) Hum Mutat 24:355-69
  13. den Hollander (2001) Am J Hum Genet 69:198–203
  14. Morimura H (1998) Proc Natl Acad Sci 95:3088–3093
  15. Koenekoop (2005) Ophthalmic Genetics 26:175-179
NR2E3 Gene Sequencing

Forms and Documents

Test Details

NR2E3
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

586
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. Audo et al., (2008) Invest Ophthalmol Vis Sci 49:2082-2093
  2. Bandah et al., (2009) Arch Ophthalmol 127(3):297-301
  3. Coppieters et al., (2007) Am J Hum Genet 81:147-157
  4. Solnas et al., (2008) Clin Genet 73:360-366
  5. Wright et al., (2004) Hum Mutat #756 Online
NYX Gene Sequencing

Forms and Documents

Test Details

NYX
  • Confirmation of a clinical diagnosis.
  • Development of an appropriate management plan.
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

431
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 368.63 Abnormal dark adaptation curve, Abnormal threshold of cones or rods, Delayed adaptation of cones or rods
  • 368.61 Congenital night blindness, Hereditary night blindness, Oguchi's disease
* For price inquiries please email zebras@genedx.com

References

  1. van Genderen et al., (2009) Am J Hum Genet 85: 730-736
  2. Audo et al., (2009) Am J Hum Genet 85: 720- 729
  3. Li et al., (2009) Am J Hum Genet 85:711-719
  4. Xiao et al., (2006) J Hum Genet 51:634-640
  5. Pusch et al., (2000) Nat Genet 26:324-327
  6. Bech-Hansen et al., (2000) Nat Genet 26: 319-323
PAX2 Gene Sequencing

Forms and Documents

Test Details

PAX2
  • Confirmation of the clinical diagnosis
  • Differentiation of renal-coloboma syndrome from other coloboma-associated disorders (e.g., morning glory syndrome)
  • Establishment of an appropriate medical management plan
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

5213
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
  • 585.9 Chronic kidney disease, unspecified Chronic renal disease Chronic renal failure NOS, Chronic renal insufficiency
  • 743.8 Other specified anomalies of eye
  • 389.1 Sensorineural hearing loss, Perceptive hearing loss or deafness
  • 583.9 With unspecified pathological lesion in kidney Glomerulitis NOS, Glomerulonephritis NOS, Nephritis NOS, Nephropathy NOS
* For price inquiries please email zebras@genedx.com

References

  1. Dureau, P., et al., (2001) Ophthalmology 108(10):1912-1916
  2. Eccles MR., et al., (1999) Clin Genet 56:1-9
  3. Cunliffe HE., et al., (1998) J Med Genet 35:806-812
  4. Raca G., et al., (2011) Genetics in Medicine 13(5):437-442
PAX6 Gene Sequencing & Del/Dup Panel

Forms and Documents

Test Details

DCDC1, ELP4, PAX6, WT1
  • Confirmation of clinical diagnosis
  • Determination of the molecular basis of aniridia in patients at risk for Wilms tumor (Differentiating PAX6 related aniridia from WAGR syndrome)
  • Prenatal diagnosis
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

491
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 743.45 Aniridia
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
* For price inquiries please email zebras@genedx.com

References

  1. Glaser T et al. (1994) Nat Genet 7:463
  2. Tzoulaki I et al. BMC Genetics (2005) 6:27
  3. Gronskov K et al. (2001) Hum Genet 109:11
  4. Vincent MC et al. (2002) Eur J of Hum Genet 11:163
  5. Redeker EJ et al, (2008); Mol Vis. May 7;14:836-40
PITX2 Gene Sequencing

Forms and Documents

Test Details

PITX2
  • Confirmation of a clinical diagnosis
  • Recurrence risk calculation
  • Prenatal diagnosis in families with known mutation
  • Capillary Sequencing

Ordering

1341
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
* For price inquiries please email zebras@genedx.com

References

  1. Semina et al. (1996) Nat Genet 14:392-399
  2. Hjalt et al. (2005) Expert Reviews in Molecular Medicine 7(25)1-15
  3. Lines et al. (2004) Invest Ophthalmol Vis Sci.Science 45(3):828-833
  4. Perveen et al. (2000) Invest Ophthalmol Vis Sci.41(9):2456-2460
  5. Priston et al. (2001) Human Molecular Genetics 10(16):1631-1638
  6. Mears et al. (1998) Am J Hum Genet 63:1316-1318
  7. Nishimura et al. (2001) American Journal of Human Genetics 68(2):364-372
PRPF3 Gene Sequencing

Forms and Documents

Test Details

PRPF3
  • Confirmation of a clinical diagnosis
  • To differentiate adRP from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2973
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. Dryja TP (1991) Proc. Natl. Acad. Sci. USA Vol. 88, pp. 9370-9374
  2. Kajiwara K (1993) Nat Genet.Mar;3(3):208-12
  3. Browne SJ (2006) Invest Ophthalmol Vis Sci. Jan;47(1):34-42
  4. Sullivan LS (2006) Invest Ophthalmol Vis Sci. Oct;47(10):4579-88
  5. Davidson et al., (2009) Am J Hum Genet 85:581-592
  6. Riazuddin SA (2005) Invest Ophthalmol Vis Sci. Jul;46(7):2264-70
  7. Naushin W(2007) Invest Ophthalmol Vis Sci, Mar;48(3):1330-4
  8. Kennan A (2005) Trends Genet Feb;21(2):103-10
  9. Gamundi MJ (2007). Mol Vis. Jun 28;13:1031-7
  10. Sullivan LS (2006) Invest Ophthalmol Vis Sci. Jul;47(7):3052-64
  11. Ziviello C (2005). J Med Genet. Jul;42(7):e47
  12. Retnet http://www.sph.uth. tmc.edu/RetNet/
  13. Bunker CH (1984) Am J Ophthalmol; 97: 357–6522
  14. Haim M (2002) Acta Ophthalmol Scand Suppl 80:1-34
RDH5 Gene Sequencing

Forms and Documents

Test Details

RDH5
  • Confirmation of a clinical diagnosis.
  • Differential diagnosis: Dietary vitamin A deficiency, vitamin A deficiency resulting from a lack of lipoprotein (Bassen-Kornzweig syndrome), a lack of serum retinoid-binding protein, gyrate atrophy or choroideremia.
  • Carrier testing for family members of an affected individual with known mutation(s).
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

427
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Yamamoto H et al., (1999) Nat Genet 22:188-91
  2. Nakamura et al. (2003) Doc Ophthalmol 107(1):3-11
  3. Liden et al., (2001) J Biol Chem 276(52):49251-7
  4. Driessen et al., (2001) Ophthalmology 108(8):1479-
  5. Nakamura et al., (2000) Invest Ophthalmol Vis Sci 41(12):3925-32
  6. Dryja TP (2000) Am J Ophthalmol 130(5):547-63
  7. Niwa et al., (2005) Invest Ophthalmol Vis Sci 46(4):1480-5
RDS (PRPH2) Gene Sequencing

Forms and Documents

Test Details

RDS (PRPH2)
  • Confirmation of a clinical diagnosis
  • To differentiate adRP from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

299
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. Browne SJ (2006) Invest Ophthalmol Vis Sci. Jan;47(1):34-42
  2. Sullivan LS (2006) Invest Ophthalmol Vis Sci. Oct;47(10):4579-88
  3. Naushin W(2007) Invest Ophthalmol Vis Sci, Mar;48(3):1330-4
  4. Dryja TP (1991) Proc. Natl. Acad. Sci. USA Vol. 88, pp. 9370-9374
  5. Riazuddin SA (2005) Invest Ophthalmol Vis Sci. Jul;46(7):2264-70
  6. Davidson et al., (2009) Am J Hum Genet 85:581-592
  7. Kajiwara K (1993) Nat Genet.Mar;3(3):208-12
  8. Gamundi MJ (2007). Mol Vis. Jun 28;13:1031-7
  9. Kennan A (2005) Trends Genet Feb;21(2):103-10
  10. Retnet http://www.sph.uth. tmc.edu/RetNet/
  11. Sullivan LS (2006) Invest Ophthalmol Vis Sci. Jul;47(7):3052-64
  12. Bunker CH (1984) Am J Ophthalmol; 97: 357–6522
  13. Ziviello C (2005). J Med Genet. Jul;42(7):e47
  14. Haim M (2002) Acta Ophthalmol Scand Suppl 80:1-34
RHO Gene Sequencing

Forms and Documents

Test Details

RHO
  • Confirmation of a clinical diagnosis
  • To differentiate from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

298
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1
No
Yes
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. Naushin W(2007) Invest Ophthalmol Vis Sci, Mar;48(3):1330-4
  2. Dryja TP (1991) Proc. Natl. Acad. Sci. USA Vol. 88, pp. 9370-9374
  3. Riazuddin SA (2005) Invest Ophthalmol Vis Sci. Jul;46(7):2264-70
  4. Davidson et al., (2009) Am J Hum Genet 85:581-592
  5. Sullivan LS (2006) Invest Ophthalmol Vis Sci. Oct;47(10):4579-88
  6. Browne SJ (2006) Invest Ophthalmol Vis Sci. Jan;47(1):34-42
  7. Kajiwara K (1993) Nat Genet.Mar;3(3):208-12
  8. Kennan A (2005) Trends Genet Feb;21(2):103-10
  9. Sullivan LS (2006) Invest Ophthalmol Vis Sci. Jul;47(7):3052-64
  10. Gamundi MJ (2007). Mol Vis. Jun 28;13:1031-7
  11. Retnet http://www.sph.uth. tmc.edu/RetNet/
  12. Ziviello C (2005). J Med Genet. Jul;42(7):e47
  13. Bunker CH (1984) Am J Ophthalmol; 97: 357–6522
  14. Haim M (2002) Acta Ophthalmol Scand Suppl 80:1-34
RLBP1 Gene Sequencing

Forms and Documents

Test Details

RLBP1
  • Confirmation of a clinical diagnosis.
  • Development of an appropriate management plan.
  • Prenatal diagnosis in families, in which the pathogenic mutation(s) have been identified.
  • Capillary Sequencing

Ordering

4241
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Souied E et al., (1996) Am J Ophthalmol 121:19-25
  2. Kajiwara K et al., (1993) Nat Genet 3:208-212
  3. Maw et al., (1997) Nat Genet 17:198-200
  4. Humbert et al., (2006) Invest Ophthalmol Vis Sci 47:4719-4724
  5. Morimura et al., (1999) Invest Ophthalmol Vis Sci 40:1000-1004
  6. Katsanis et al., (2001) Clin Genet 59:424-429
  7. Demirci et al., (2004) Am J Ophthalmol 138:171-173
  8. Fishman et al., (2004) Arch Ophthalmol 122:70-75
  9. Burstedt et al., (2001) Arch Ophthalmol 119:260-267
  10. Eichers et al., (2002) Am J Hum Genet 70:955-964
  11. Burstedt et al., (1999) Invest Ophthalmol Vis Sci 40:995-999
  12. Dryja TP; (2000) Am J Ophthalmol 130:547-63
RP2 Gene Sequencing

Forms and Documents

Test Details

RP2
  • Confirmation of clinical diagnosis
  • Identification of female carriers for a mutation with a mild phenotype
  • Establish the mode of inheritance
  • Prenatal diagnosis in at risk pregnancies
  • Pre-symptomatic testing
  • Capillary Sequencing

Ordering

326
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. Dandekar et al (2004) Br J Ophthalmol 88:528-532
  2. Prokisch et al., (2007) Investigative Ophthalmology & Visual Science 48:4012-4018
  3. Sharon et al. (2003) Am. J. Hum. Genet. 73:1131-1146
  4. Garcia-Hoyos et al., (2006) Investigative Ophthalmology & Visual Science 47:3777-3782
  5. Jin et al., (2006) Molecular Vision 12:1167-1174
RPE65 Gene Sequencing

Forms and Documents

Test Details

RPE65
  • Confirmation of a clinical diagnosis
  • To differentiate LCA from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

345
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. Hanein S (2004) Hum Mutat 23:306-317
  2. Booij J (2007) J Med Genet 42:67-75
  3. Stone E (2007) Am J Ophthalmol 144(6):791-811
  4. Koenekoop R (2007) Clin and Experimental Ophthalmology 35:473-485
  5. Browne SJ (2006) Invest Ophthalmol Vis Sci 47(1):34-42
  6. den Hollander AI (2006) Am J Hum Genet 79(3):556-61
  7. Ito S (2004) Invest Ophthalmol Vis Sci 45(5):1480-5
  8. Sohocki (2000) Mol. Genet. Metab. 70, 142–150
  9. Bernal S (2003) J Med Genet 40:e89
  10. den Hollander (1999) Nat Genet 23:217–221
  11. den Hollander (2004) Hum Mutat 24:355-69
  12. den Hollander (2001) Am J Hum Genet 69:198–203
  13. den Hollander AI (2008) Progress in Retinal and Eye Research 27:391-419
  14. Morimura H (1998) Proc Natl Acad Sci 95:3088–3093
  15. Koenekoop (2005) Ophthalmic Genetics 26:175-179
RPGRIP1 sequencing

Forms and Documents

Test Details

RPGRIP1
  • Confirmation of a clinical diagnosis
  • To differentiate LCA from other forms of retinal dystrophy
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2985
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. den Hollander AI (2008) Progress in Retinal and Eye Research 27:391-419
  2. Hanein S (2004) Hum Mutat 23:306-317
  3. Booij J (2007) J Med Genet 42:67-75
  4. Stone E (2007) Am J Ophthalmol 144(6):791-811
  5. Koenekoop R (2007) Clin and Experimental Ophthalmology 35:473-485
  6. Browne SJ (2006) Invest Ophthalmol Vis Sci 47(1):34-42
  7. den Hollander AI (2006) Am J Hum Genet 79(3):556-61
  8. Ito S (2004) Invest Ophthalmol Vis Sci 45(5):1480-5
  9. Sohocki (2000) Mol. Genet. Metab. 70, 142–150
  10. Bernal S (2003) J Med Genet 40:e89
  11. den Hollander (1999) Nat Genet 23:217–221
  12. den Hollander (2004) Hum Mutat 24:355-69
  13. den Hollander (2001) Am J Hum Genet 69:198–203
  14. Morimura H (1998) Proc Natl Acad Sci 95:3088–3093
  15. Koenekoop (2005) Ophthalmic Genetics 26:175-179
SAG c.926delA Mutation

Forms and Documents

Test Details

SAG
  • Confirmation of a clinical diagnosis.
  • Development of an appropriate management plan.
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

517
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 368.63 Abnormal dark adaptation curve, Abnormal threshold of cones or rods, Delayed adaptation of cones or rods
  • 368.61 Congenital night blindness, Hereditary night blindness, Oguchi's disease
* For price inquiries please email zebras@genedx.com

References

  1. Dryja et al., (1993) Nat Genet 4:280-283
  2. al-Jandal et al., (1999) Human Mutation 13:75-81
  3. Yamamoto H et al., (1999) Nat Genet 22:188-91
  4. Nakamura et al. (2003) Doc Ophthalmol 107(1):3-11
  5. Yamamoto et al., (1997) Nat Genet 15(2):175-178
  6. Nakamura et al., (2004) American Academy of Ophthalmology 111(7):1410-1414
  7. Nakazawa et al., (1998) Arch Ophthalmol 116:498-501
  8. Fuchs et al., (1995) Nat Genet 10:360-362
  9. van Genderen et al., (2009) Am J Hum Genet 85: 730-736
  10. Li et al., (2009) Am J Hum Genet 85:711-719
  11. Bech-Hansen et al., (2000) Nat Genet 26: 319-323
  12. Xiao et al., (2006) J Hum Genet 51:634-640
  13. Pusch et al., (2000) Nat Genet 26:324-327
  14. Audo et al., (2009) Am J Hum Genet 85: 720- 729
  15. Nakamura et al., (2000) Invest Ophthalmol Vis Sci 41(12):3925-32
SAG Remaining Exon Sequencing

Forms and Documents

Test Details

SAG
  • Confirmation of a clinical diagnosis.
  • Development of an appropriate management plan.
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

518
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 368.63 Abnormal dark adaptation curve, Abnormal threshold of cones or rods, Delayed adaptation of cones or rods
  • 368.61 Congenital night blindness, Hereditary night blindness, Oguchi's disease
* For price inquiries please email zebras@genedx.com

References

  1. al-Jandal et al., (1999) Human Mutation 13:75-81
  2. Dryja et al., (1993) Nat Genet 4:280-283
  3. Yamamoto H et al., (1999) Nat Genet 22:188-91
  4. Nakamura et al. (2003) Doc Ophthalmol 107(1):3-11
  5. Nakamura et al., (2000) Invest Ophthalmol Vis Sci 41(12):3925-32
  6. Yamamoto et al., (1997) Nat Genet 15(2):175-178
  7. Nakamura et al., (2004) American Academy of Ophthalmology 111(7):1410-1414
  8. Nakazawa et al., (1998) Arch Ophthalmol 116:498-501
  9. Fuchs et al., (1995) Nat Genet 10:360-362
  10. Li et al., (2009) Am J Hum Genet 85:711-719
  11. Audo et al., (2009) Am J Hum Genet 85: 720- 729
  12. Bech-Hansen et al., (2000) Nat Genet 26: 319-323
  13. Pusch et al., (2000) Nat Genet 26:324-327
  14. Xiao et al., (2006) J Hum Genet 51:634-640
  15. van Genderen et al., (2009) Am J Hum Genet 85: 730-736
TRPM1 Gene Sequencing

Forms and Documents

Test Details

TRPM1
  • Confirmation of a clinical diagnosis.
  • Development of an appropriate management plan.
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

489
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 368.63 Abnormal dark adaptation curve, Abnormal threshold of cones or rods, Delayed adaptation of cones or rods
  • 368.61 Congenital night blindness, Hereditary night blindness, Oguchi's disease
* For price inquiries please email zebras@genedx.com

References

  1. van Genderen et al., (2009) Am J Hum Genet 85: 730-736
  2. Audo et al., (2009) Am J Hum Genet 85: 720- 729
  3. Li et al., (2009) Am J Hum Genet 85:711-719
  4. Xiao et al., (2006) J Hum Genet 51:634-640
  5. Pusch et al., (2000) Nat Genet 26:324-327
  6. Bech-Hansen et al., (2000) Nat Genet 26: 319-323
XLRS1 (RS1) Gene Sequencing

Forms and Documents

Test Details

XLRS1 (RS1)
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

2571
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 362.73 Vitreoretinal dystrophies, Juvenile retinoschisis
* For price inquiries please email zebras@genedx.com

References

  1. The Retinoschisis Consortium, Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis, Human Molecular Genetics 7:1185-1192 (1998)
  2. Hiriyanna, K.T. et al., Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change, Human Mutation 14:423-427 (1999)
  3. Sieving PA et al., Juvenile Retinoschisis: A Model For Molecular Diagnostic Testing of X-Linked Ophthalmic Disease, Am Ophth Soc Vol XCV11 (1999)

Hearing Loss Tests

Hearing Loss Test

Forms and Documents

Test Details

ABHD12, ACTG1, ATP6V1B1, BDP1, BSND, CABP2, CACNA1D, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A2, COL4A3, COL4A4, COL4A6, CRYM, DCDC2, DFNA5, DFNB59, DIABLO, DIAPH1, DIAPH3, EDN3, EDNRB, ELMOD3, EPS8, ESPN, ESRRB, EYA1, EYA4, FAM189A2, FAM65B, GATA3, GIPC3, GJA1, GJB1, GJB2 (Cx26), GJB3 (Cx31), GJB6 (Cx30), GPR98, GPSM2, GRHL2, GRXCR1, HARS, HARS2, HGF, HOMER2, HSD17B4, ILDR1, JAG1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LHX3, LOXHD1, LRTOMT, MARVELD2, MCM2, MIR96, MITF, MSRB3, MT-RNR1, MT-TL1, MT-TS1, MYH14, MYH9, MYO15A, MYO1A, MYO1C, MYO1F, MYO3A, MYO6, MYO7A, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PMP22, PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, S1PR2, SERPINB6, SIX1, SIX5, SLC17A8, SLC26A4, SLC26A5, SLITRK6, SMPX, SNAI2, SOX10, SOX2, STRC, SYNE4, TBC1D24, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TMPRSS5, TPRN, TRIOBP, TSPEAR, USH1C, USH1G, USH2A, WFS1, WHRN/DFNB31
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Long Range PCR
  • MLPA
  • Multiplex junction-specific PCR
  • Sanger/ABI sequencing

Ordering

J806
6-8 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81430x1, 81431x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Morton et al. (2006) N. Engl. J. Med. 354 (20):2151-64 (PMID: 16707752)
  2. Wroblewska-Seniuk et al. (2017) Pediatr. Res. : (PMID: 27861465)
  3. Hilgert et al. (2009) Mutat. Res. 681 (2-3):189-96 (PMID: 18804553)
  4. Sloan-Heggen et al. (2016) Hum. Genet. 135 (4):441-50 (PMID: 26969326)
  5. Shearer et al. (2010) Proceedings Of The National Academy Of Sciences Of The United States Of America 107 (49):21104-9 (PMID: 21078986)
  6. Sommen et al. (2016) Hum. Mutat. 37 (8):812-9 (PMID: 27068579)
  7. Venkatesh et al. (2015) Med J Armed Forces India 71 (4):363-8 (PMID: 26663965)
  8. Kochhar et al. (2007) Genet. Med. 9 (7):393-408 (PMID: 17666886)
  9. Martínez et al. (2009) Antioxid. Redox Signal. 11 (2):309-22 (PMID: 18837651)
GJB2 Gene Sequencing

Forms and Documents

Test Details

GJB2 (Cx26)
  • Confirmation of a clinical diagnosis
  • To distinguish GJB2 disorders from other forms of palmoplantar keratoderma
  • Defining the inheritance pattern in the family or individual
  • Prenatal diagnosis in families with known mutation(s)
  • Capillary Sequencing

Ordering

130
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81252x1
Yes
Yes
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
  • 389.1 Sensorineural hearing loss, Perceptive hearing loss or deafness
* For price inquiries please email zebras@genedx.com

References

  1. Richard et al. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey Syndrome is caused by a novel missense mutation in GJB2. J Invest Dermatol, 123(5):856-63, 2004
  2. Maestrini et al. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel\\\\\\\\\\\\\\\'s syndrome) in three unrelated families. Hum. Mol. Genet. 8: 1237–1243, 1999
  3. G. Richard. Connexin Disorders of the Skin. Clinics in Dermatology, 23:23-32, 2005
GJB6 Gene Sequencing

Forms and Documents

Test Details

GJB6 (Cx30)
  • Confirmation of the clinical diagnosis
  • To distinguish between different forms of ectodermal dysplasias
  • Prenatal diagnosis in families with known mutation
  • Capillary Sequencing

Ordering

157
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 757.31 Congenital ectodermal dysplasia
* For price inquiries please email zebras@genedx.com

References

  1. Jan et al. Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. J Invest Dermatol. 2004 May;122(5):1108-13
  2. Smith et al. A novel connexin 30 mutation in Clouston syndrome. J Invest Dermatol. 2002 Mar; 118(3):530-2
  3. van Steensel et al. Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol. 2003 Nov;121(5):1035-8
  4. Lamartine et al. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet. 2000 Oct;26(2):142-4
SLC26A4 Gene Sequencing

Forms and Documents

Test Details

SLC26A4
  • Confirmation of a clinical diagnosis
  • Differential diagnosis from other types of hearing loss
  • Carrier testing in siblings or other relatives
  • Capillary Sequencing

Ordering

572
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
  • 241.1 Nontoxic multinodular goiter Multinodular goiter (nontoxic)
  • 389.1 Sensorineural hearing loss, Perceptive hearing loss or deafness
* For price inquiries please email zebras@genedx.com

References

  1. Smith, R. and Van Camp, G. (Updated April 2, 2009). Pendred syndrome/DFNB4. In: GeneReviews at GeneTests: http://www.genetests.org.
  2. Napiontek, U. et al. (2004) J Clin Endocrinol Metab 89(11):5347-5351.
  3. Anwar, S. et al. (2009) J Hum Genet 54(5):266-270.
  4. Yang, T. et al. (2007) Am J Hum Genet 80:1055-1063.
  5. Pera, A. et al. (2008) Eur J Hum Genet 16:888-896.
  6. Campbell, C. et al. (2001) Hum Mutat 17:403-411.
  7. Tsukamoto, K. et al. (2003) Eur J Hum Genet 11:916-922.

Ophthalmology Variant Testing Program (VTP)

Laboratories classify genetic changes as variants of uncertain significance (VUS) if there is incomplete or conflicting information about the health consequences of the variant. In some cases, testing family members for the presence or absence of the VUS may contribute to a better understanding of the variant and may be one piece of evidence leading to eventual reclassification of a VUS as a pathogenic, likely pathogenic, benign, or likely benign variant. For such cases, GeneDx has established a Variant Testing Program (VTP).

How do I determine if a variant is eligible for the Ophthalmology VTP?

GeneDx considers requests for the Ophthalmology VTP for any individual found to have a VUS identified by a GeneDx Ophthalmology panel or single gene test. These studies will be performed at no additional charge for select and pre-approved family members who meet certain criteria and for whom appropriate clinical information is provided. Please note that GeneDx requires specific clinical documentation to ensure the most informative family members are tested. GeneDx will make the final determinations for VTP in its sole discretion.

GeneDx will test up to two affected family members at no charge through the Ophthalmology VTP. If the family history is completely negative, then testing of both parents is available at no additional charge to determine if the variant has occurred de novo.

Application process for the Ophthalmology VTP:

  • Please fax a detailed pedigree and any relevant clinical information/evaluations to the GeneDx Ophthalmology genetic counselors at 301-519-2892, email genedx@genedx.com, or call 301-519-2100 and ask to speak with a genetic counselor. Please be sure to indicate that you are submitting the information for VTP consideration, and include the name and/or GeneDx accession number of the proband.
  • Our team will review the case and will determine if there are informative family members appropriate for evaluation through the VTP. Cases are typically reviewed within a few days, but please allow up to 3 weeks after receipt of the application for a reply.
  • Please note that in order to qualify for the Ophthalmology VTP, we require detailed clinical records and may require documentation of specific studies, such as a comprehensive evaluation by an ophthalmologist or an electroretinogram (ERG), even on at-risk family members who are clinically asymptomatic. Because the clinical information is being used to assess segregation of a variant with disease in the family, detailed clinical records and the submission of a pedigree or family history information are required.
  • A member of our team will contact the ordering provider or genetic counselor after the case has been reviewed to let him/her know if the family has been accepted in the VTP. If we are extending an offer for family member variant testing at no additional charge, we will discuss logistics of sample submission at that time.

Reasons why a family might not be accepted into the Ophthalmology VTP:

  • There are no informative family members available for testing.
  • The variant is present with an allele frequency that is higher than expected for a pathogenic variant based on the prevalence of the disease in the population and on genetic heterogeneity, so familial segregation studies will not be informative.
  • The variant is in a gene that does not correspond to the disease phenotype in the family.
  • In certain circumstances, it may be more informative to perform more comprehensive diagnostic genetic testing in affected family member(s) instead of targeted testing of one or more unaffected relatives for a VUS.
  • Variant studies for the evaluation of a single VUS in a gene associated with an autosomal recessive disorder are rarely informative. Therefore, these requests are typically denied.

Revising the classification of variants of uncertain significance takes a great deal of data and information from multiple sources. Therefore, there is no guarantee that participation in the Variant Testing Program will lead to an updated classification of a VUS based on information from a single family, although cumulative data collected from multiple families over time may lead to a more definitive classification for a variant.

For more information please contact:
The GeneDx Genetic Counselors at 301-591-2100