TAY-SACHS DISEASE MUTATION ANALYSIS HEXA

General Information

HLAB/HOL Code: TSDXC
UPHSM LIS Test #: 6636
Schedule: Tuesday
Testing Time: 3 days
Testing Lab: Mayo Labs

Specimen Info
Only 1 specimen type required, unless otherwise specified

Volume: 3.0 mL Whole Blood
Temperature: Ambient
Tube Type: 1 Yellow top (ACD) preferred
Collection Info:
Although ACD is the preferred anticoagulant for whole blood samples, any other anticoagulant is acceptable.
Specimen must arrive within 96 hours of collection.  Send specimen in original tube.
All prenatal specimens must be accompanied by a maternal blood specimen.  Order MCC/88636 Maternal Cell Contamination, Molecular Analysis on both the prenatal and maternal specimens. Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing.
Volume: 20 mL Amniotic fluid
Temperature: Refrigerated
Tube Type: Amniotic Fluid container
Collection Info:
See above
Volume: 20 mg Chorionic villi
Temperature: Refrigerated
Tube Type: 15 mL Transport media
Collection Info:
See above

Methods

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

Clinical Utilities

Identifying carriers of Tay-Sachs disease.  Confirming a diagnosis of Tay-Sachs disease.  Determining carrier status for individuals with enzyme activity within the carrier or equivocal ranges Prenatal diagnosis for at risk families

CPT Codes

81255
For prenatal specimens only:
Maternal cell contamination studies will be added and charged separately (81265).
If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately (88235, 88240).
If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately (88233, 88240).

* The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding
is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Reference Range

An interpretive report will be provided.