MCOLN1 Gene Sequencing

Forms and Documents

Test Details

MCOLN1
  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

2432
4-6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

81290x1, 81479x1
No
Yes
  • 272.7 Lipidoses (Fabry Disease)
* For price inquiries please email zebras@genedx.com

References

  1. Bargal (2000) Nat Genet 26, 118
  2. Sun (2000) Hum Mol Genet 9, 2471
  3. Bassi (2000) Am J Hum Genet 67, 1110
  4. Bach (2005) Hum Mutat 26(6):591
  5. Dobrovolny (2007) Am J Ophthalmol 143:663-671
  6. Bargal (2001) Hum Mutat 17:397-402
  7. Slaugenhaupt (2002) Curr Molec Med 2:445-450