Familial Dysautonomia, DNA Analysis

Alphabetical Test listing

Familial Dysautonomia, DNA Analysis-994

  
Familial Dysautonomia, DNA Analysis
  
994
  
LAB994
  
MSO
  
2507+6 T>C
IVS20+6T>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
  

Lavender (EDTA), 10mL

 

  
ACD whole blood
Amniotic fluid
CVS
  

Yellow ACD (A or B)

 

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

Yellow ACD (A or B)

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

  

Ambient

  
  • 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

  
81260
  
08/01/2019
  
02/03/2021
  
06/05/2020