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

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Specimen Required

"Molecular Genetics-Congenital Inherited Diseases Patient

Information Sheet" (Supply T521 or see Special Instructions)

is required for all orders. If not ordering electronically, please submit

the above information sheet along with a "Molecular Genetics Request

Form" (Supply T245) with the specimen.

 

Specimen must arrive within 96 hours of collection.

 

Submit only 1 of the following specimens:

 

Blood

Draw blood in a yellow-top (ACD) tube(s), and send 3 mL of

ACD whole blood in original VACUTAINER(S). Invert several

times to mix blood. Forward unprocessed whole blood promptly

at ambient temperature.

 

Prenatal Specimens  

All prenatal specimens must be accompanied by a maternal

blood specimen. Due to the complexity

of prenatal testing, consultation with the laboratory

is required for all prenatal testing.

 

Amniotic Fluid

Obtain 20 mL of amniotic fluid. Transfer specimen to 2 screw-

capped, sterile centrifuge tubes. Send specimen refrigerated.

Specimen cannot be frozen. A separate culture charge will

be assessed under #80334 "Amniotic Fluid Culture for

Genetic Testing." Alternatively, we will accept 2 T-25 flasks

of confluent cultured cells from another laboratory sent at

ambient temperature.

 

Chorionic Villi

Obtain 20 mg of chorionic villus specimen. Send specimen

refrigerated in transport media in 15-mL centrifuge tube.

Specimen cannot be frozen. A separate culture charge will

be assessed under test #80333 "Fibroblast Culture for Genetic

Testing." Alternatively, we will accept 2 T-25 flasks of confluent

cultured cells from another laboratory sent at ambient temperature.

Transport Temperature

Varies
Ambient\Refrig OK\Frozen NO - blood
Refrig\Ambient OK\Frozen NO - amniotic fluid
Refrig\Ambient NO\Frozen NO - chorionic villi

Reject Due To

No specimen should be rejected.  If sample not received at

appropriate temperature or in wrong anti-coagulant, please

include note to lab.  If questions, contact lab.

Day(s) and Time(s) Test Performed

Wednesdays; 2 p.m.

Key