Familial Dysautonomia, DNA Analysis

Alphabetical Test listing

Familial Dysautonomia, DNA Analysis-994

Familial Dysautonomia, DNA Analysis
2507+6 T>C
Jewish Heritage Test
Riley-Day Syndrome

Carrier detection of familial dysautonomia in the Ashkenazi Jewish population. DNA testing may be used to confirm affected status.


This test has limited value in individuals who are not of Ashkenazi Jewish descent. This assay detects two mutations, IVS20+6T>C and R696P; no other mutations are detected.

EDTA whole blood
7 mL
3 mL

Immediately following collection, mix sample thoroughly by gently inverting 8 - 10 times, to prevent clotting


Lavender (EDTA), 10mL


ACD whole blood
Amniotic fluid

Yellow ACD (A or B)


Amniotic fluid - 10mL (minimum 5 mL)
CVS - 20 mg (minimum 10 mg)

ACD whole blood

Yellow ACD (A or B)

Amniotic fluid or CVS:

Sterile plastic conical tube or two confluent T25 flasks for fetal testing



  • Frozen specimen
  • Hemolysis
  • Quantity not sufficient for analysis (QNS)
  • Improper container
LabCorp Burlington (511352): R-NX
2x per week (as needed)
8 - 15 days
If cultured cells are needed, an additional 7-12 days may be required

Polymerase chain reaction (PCR); primer extension; flow-sorted bead array analysis

This test may require preauthorization from the insurance provider. Check the payer guidelines and, if needed, obtain the pre-authorization prior to sample collection.

Medical necessity

Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medical billing request form along with the sample.

  • Complete and submit the form to notify us of the need for Allina Health Laboratory to bill insurance for Molecular testing performed
  • All information requested is required in order for your request to be completed

Molecular Medicare billing request