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Unit Code 82970:
Uniparental Disomy

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Specimen Required

In addition to child/fetal specimen, a blood specimen from

both parents is required for the analysis. Each specimen will

be charge separately.

 

"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. Please

specify on the "Molecular Genetics - Congenital Inherited Diseases

Patient Information Sheet" (Supply T521) which chromosome is

needed for uniparental disomy analysis. An "Informed Consent Form

for DNA Testing" (Supply T576) is available. See Special Instructions

for a copy of the form.

 

Specimens must arrive within 96 hours of collection.

 

Submit 1 of the following specimens:

 

Blood

Draw blood in a lavender-top (EDTA) tube(s) or a yellow-top

(ACD) tube(s), and send 3 mL of EDTA or 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 #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 specimen 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

Specimens received Friday by 10 a.m. will be processed

the following Monday. Testing will be performed once all

familial specimens are received.

Key