Brown-Vialetto-Van Laere Syndrome

Forms and Documents

Test Details

AARS, AIFM1, ATL1, ATP7A, BSCL2, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GLA, GNB4, HARS, HINT1, HSPB1, HSPB8, IGHMBP2, IKBKAP, INF2, KIF1A, KIF5A, LITAF, LMNA, LRSAM1, MFN2, MME, MORC2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PLEKHG5, PMP22, PRDM12, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF1, SBF2, SCN11A, SCN9A, SEPT9, SH3TC2, SLC12A6, SLC52A2, SLC52A3, SPTLC1, SPTLC2, TFG, TRIM2, TRPV4, TTR, WNK1, YARS
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with neuropathy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

737
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81260X1, 81324X1, 81325X1, 81403x1, 81404x4, 81405x2, 81406x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ACAD9, ETFA, ETFB, ETFDH, FLAD1, SLC25A32, SLC52A1, SLC52A2, SLC52A3
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of riboflavin transporter deficiency
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J981
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. Jaeger et al. (2016) J. Inherit. Metab. Dis. 39 (4):559-64 (PMID: 26973221)
  2. Manole A, Houlden H. Riboflavin Transporter Deficiency Neuronopathy. 2015 Jun 11. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  3. Olsen et al. (2016) Am. J. Hum. Genet. 98(6):1130-45 (PMID: 27259049)
  4. Dewulf et al. (2016). Mol. Genet. Metab. 118(3):185-9 (PMID: 27233227)
  5. Ho et al. (2011). Hum. Mutat. 32(1):E1976-84 (PMID: 21089064)
  6. Foley et al. (2014) Brain: A Journal Of Neurology 137 (Pt 1):44-56 (PMID: 24253200)
  7. Schiff et al., (2016) New Eng. J. Med. 374:795-797.