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.
Immediately following collection, mix sample thoroughly by gently inverting 8 - 10 times, to prevent clotting
Lavender (EDTA), 10mL
Yellow ACD (A or B)
ACD whole blood
Yellow ACD (A or B)
Amniotic fluid or CVS:
Sterile plastic conical tube or two confluent T25 flasks for fetal testing
Ambient
Polymerase chain reaction (PCR); primer extension; flow-sorted bead array analysis
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.