FDP - Overview: Familial Dysautonomia, Mutation Analysis, IVS20(+6T->C) and R696P

Test Catalog

Test Name

Test ID: FDP    
Familial Dysautonomia, Mutation Analysis, IVS20(+6T->C) and R696P

Useful For Suggests clinical disorders or settings where the test may be helpful

Carrier screening for familial dysautonomia in individuals of Ashkenazi Jewish ancestry

 

Prenatal diagnosis of familial dysautonomia in at-risk pregnancies

 

Confirmation of a clinical diagnosis of familial dysautonomia in individuals of Ashkenazi Jewish ancestry

Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo
CULAFAmniotic Fluid Culture/Genetic TestYesNo
MATCCMaternal Cell Contamination, BYesNo

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) Analysis

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Conditional

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Familial Dysautonomia, Mutation

Aliases Lists additional common names for a test, as an aid in searching

Hereditary Sensory and Autonomic Neuropathy, Type III
HSAN-III
Riley-Day Syndrome
FD
IKBKAP