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Unit Code 85319:
Familial Dysautonomia, Mutation Analysis, IVS20(+6T->C) and R696P

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

Carrier testing for individuals of Ashkenazi Jewish ancestry.

 

Prenatal diagnosis for at-risk pregnancies

 

Confirmation of a clinical diagnosis 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)

 Unit Code  Reporting Name  Available Separately  Always Performed 
80333 Fibroblast Culture for Genetic Test Yes No
80334 Amniotic Fluid Culture/Genetic Test Yes No

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

Note: This testing algorithm only applies to prenatal testing.

If amniotic fluid (non-confluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (non-confluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately.

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

• Molecular Genetics-Congenital Inherited Diseases Patient Information Sheet 
• Informed Consent for Genetic Testing 

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

85319: Polymerase Chain Reaction (PCR) with Luminex
Technology
(PCR is utilized pursuant to a license agreement with
Roche Molecular Systems, Inc.)
80333, 80334: Cell Culture

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

Familial Dysautonomia, Mutation

Ordering Mnemonic An alternate Mayo code (to the Unit Code) for a test

FD

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

Soft-FD