Fazio-Londe Syndrome

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.