Joubert Syndrome

Joubert syndrome is characterized by the presence of a midbrain and hindbrain abnormality called a molar tooth sign, which results from cerebellar hypoplasia, thickened superior cerebellar peduncles, and a deepened interpeduncular fossa. Individuals with Joubert syndrome typically exhibit hypotonia, developmental delay, and variable cognitive impairment, sometimes also associated with breathing abnormalities and oculomotor apraxia. Variant forms of this disorder can also include retinal dystrophy, renal disease, occipital encephalocele, polydactyly, hepatic fibrosis, or other abnormalities.

Tests Available

Forms and Documents

Test Details

ACTB, ACTG1, ADGRG1, AHI1, AKT3, ARFGEF2, ARL13B, ARX, ASPM, ATP6V0A2, B3GALNT2, B3GNT1, B9D1, C5orf42, CASK, CC2D2A, CCND2, CEP290, CEP41, CHMP1A, CLP1, CSPP1, CUL4B, DCX, DYNC1H1, ERMARD, EXOSC3, FAT4, FKRP, FKTN, FLNA, GMPPB, GPSM2, IFT172, INPP5E, ISPD, KIAA1279 (KIF1BP), KIF2A, KIF5C, KIF7, LAMB1, LAMC3, LARGE, MKS1, NDE1, NPHP1, NPHP3, OCLN, OFD1 (CXORF5), OPHN1, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RELN, RPGRIP1L, RTTN, SEPSECS, SRD5A3, SRPX2, TBC1D20, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, VLDLR, VPS53, VRK1, WDR62
  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes and forms of brain malformations
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

691
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x2, 81406x3, 81407x2, 81408x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Verloes et al. (2015) European Journal Of Human Genetics : Ejhg 23 (3):292-301 (PMID: 25052316).
  2. Piao et al. (2005) Annals Of Neurology 58 (5):680-7 (PMID: 16240336).
  3. Bahi-Buisson et al. (2010) Brain : A Journal Of Neurology 133 (11):3194-209 (PMID: 20929962).
  4. Rivière et al. (2012) Nature Genetics 44 (8):934-40 (PMID: 22729224)
  5. Mirzaa et al. (2014) Nature Genetics 46 (5):510-5 (PMID: 24705253).
  6. Tanyalçin et al. (2013) European Journal Of Paediatric Neurology : Ejpn : Official Journal Of The European Paediatric Neurology Society 17 (6):666-70 (PMID: 23755938).
  7. Bahi-Buisson et al. (2013) Handbook Of Clinical Neurology 111 :653-65 (PMID: 23622213).
  8. Kato et al. (2004) Human Mutation 23 (2):147-59 (PMID: 14722918).
  9. Dobyns, et al. (2010) Epilepsia 51 Suppl 1 :5-9 (PMID: 20331703).
  10. Poirier et al. (2006) Neurogenetics 7 (1):39-46 (PMID: 16235064).
  11. Nawara et al. (2006) American Journal Of Medical Genetics. Part A 140 (7):727-32 (PMID: 16523516).
  12. Verloes A, Drunat S, Gressens P, et al. Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders. 2009 Sep 1 [Updated 2013 Oct 31].
  13. Gardeitchik et al. (2014) European Journal Of Human Genetics : Ejhg 22 (7):888-95 (PMID: 23963297).
  14. Fischer et al. (2012) Human Genetics 131 (11):1761-73 (PMID: 22773132).
  15. Stevens et al. (2013) American Journal Of Human Genetics 92 (3):354-65 (PMID: 23453667).

Forms and Documents

Test Details

AHI1, ARL13B, B9D1, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, IFT172, INPP5E, KIF7, MKS1, NPHP1, NPHP3, OFD1 (CXORF5), RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B
  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes and variant forms of Joubert syndrome
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

701
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81406x1, 81407x2, 81408x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Parisi M, Glass I. Joubert Syndrome and Related Disorders. 2003 Jul 9 [Updated 2013 Apr 11]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.n
  2. Parisi et al. (2009) American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics 151C (4):326-40 (PMID: 19876931)
  3. Sattar et al. (2011) Developmental Medicine And Child Neurology 53 (9):793-8 (PMID: 21679365).
  4. Doherty et al. (2009) Seminars In Pediatric Neurology 16 (3):143-54 (PMID: 19778711).
  5. Abdelhamed et al. (2013) Human Molecular Genetics 22 (7):1358-72 (PMID: 23283079).
  6. Baala et al. (2007) American Journal Of Human Genetics 80 (1):186-94 (PMID: 17160906).
  7. Badano et al. (2006) Annual Review Of Genomics And Human Genetics 7 :125-48 (PMID: 16722803).
  8. Mykytyn et al. (2007) Nature Genetics 39 (7):818-9 (PMID: 17597771).
  9. Khaddour et al. (2007) Human Mutation 28 (5):523-4 (PMID: 17397051).
  10. Online Mendelian Inheritance in Man; http://omim.org.
  11. Goetz et al. (2010) Nat. Rev. Genet. 11 (5):331-44 (PMID: 20395968).
  12. Lee et al. (2010) Neurobiology Of Disease 38 (2):167-72 (PMID: 20097287).
  13. Chen et al. (2007) Taiwanese Journal Of Obstetrics & Gynecology 46 (1):9-14 (PMID: 17389183).
  14. Caridi et al. (2006) Kidney International 70 (7):1342-7 (PMID: 16900087)
  15. Akizu et al. (2014) American Journal Of Human Genetics 94 (1):80-6 (PMID: 24360807).

Forms and Documents

Test Details

AHI1, ARL13B, B9D1, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, IFT172, INPP5E, KIF7, MKS1, NPHP1, NPHP3, OFD1 (CXORF5), RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B
  • Prenatal imaging findings suggestive of JSRD including molar tooth sign, other structural brain malformations, encephalopcele, renal disease, polydactyl, and cleft/lip palate
  • Next-Gen Sequencing
  • Exon Array CGH

Ordering

J803
3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81405x1, 81406x1, 81407x2, 81408x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Parisi M, Glass I. Joubert Syndrome and Related Disorders. 2003 Jul 9 [Updated 2013 Apr 11]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www
  2. Parisi et al. (2009) American Journal of Medical Genetics. Part C, Seminars In Medical Genetics 151C (4):326-40 (PMID: 19876931).
  3. Sattar et al. (2011) Developmental Medicine And Child Neurology 53 (9):793-8 (PMID: 21679365).
  4. Doherty et al. (2009) Seminars In Pediatric Neurology 16 (3):143-54 (PMID: 19778711).
  5. Abdelhamed et al. (2013) Human Molecular Genetics 22 (7):1358-72 (PMID: 23283079).
  6. Baala et al. (2007) American Journal Of Human Genetics 80 (1):186-94 (PMID: 17160906).
  7. Badano et al. (2006) Annual Review Of Genomics And Human Genetics 7 :125-48 (PMID: 16722803).
  8. Mykytyn et al. (2007) Nature Genetics 39 (7):818-9 (PMID: 17597771).
  9. Khaddour et al. (2007) Human Mutation 28 (5):523-4 (PMID: 17397051).
  10. Online Mendelian Inheritance in Man; http://omim.org.
  11. Goetz et al. (2010) Nat. Rev. Genet. 11 (5):331-44 (PMID: 20395968).
  12. Lee et al. (2010) Neurobiology Of Disease 38 (2):167-72 (PMID: 20097287).
  13. Chen et al. (2007) Taiwanese Journal Of Obstetrics & Gynecology 46 (1):9-14 (PMID: 17389183).
  14. Caridi et al. (2006) Kidney International 70 (7):1342-7 (PMID: 16900087).

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)