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Unit Code 84367:
Galactosemia Gene Analysis, Known Mutation

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Specimen Required

This test can only be performed if a mutation has previously been

identified in a family member of this individual.

 

"Molecular Genetics - Biochemical Disorders Patient

Information Sheet" (Supply T527 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. The name of the

specific mutation in the family and the laboratory at which testing was

performed must be included on the "Molecular Genetics - Biochemical

Disorders Patient Information Sheet" (Supply T527).

 

Specimen must arrive within 96 hours of collection.

 

Submit 1 of the following specimens:

 

Blood

Draw blood in a lavender-top (EDTA) tube(s), and send 3 mL

of EDTA 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 #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

Specimens Other Than:                 Blood, amniotic fluid, chorionic villi

Anticoagulants Other Than:           EDTA   

Hemolysis:                                          No                                         

Thawing:                                              No                                         

Lipemia:                                               No                                           

Day(s) and Time(s) Test Performed

Thursday; 2 p.m.

Key