Test Menu
Standard Panel
Test for carrier status of 29 hereditary disorders with ACOG/ACMG guidelines.
Test Code
3500, 3300
Specimen Type
Whole blood or mouthwash specimens accepted†
Additional 8.5 mL yellow-top ACD tube required only for optional Tay-Sachs HexA Enzyme analysis. (test code: 2201)
Collection
- Complete the test requisition form (provided separately).
- Peel off label from the test requisition and label tube with patient’s name and date of birth. Failure to provide two patient identifiers will prevent or delay testing.
- Follow collection protocol based on sample type in kit. The yellow-top ACD tube is required only for the optional Tay-Sachs disease Hexosaminidase A enzyme analysis. If drawing the yellow-top ACD tube, ensure that samples are shipped or picked up the same day. No Saturday draws.
- Put the sample in the specimen bag with the absorbent sleeve and seal the bag.
- Insert completed test requisition form into outer pocket of specimen bag.
Stability
5 days ambient/10 days refrigerated.
Store at room temperature 65 – 86°F (18 – 30°C).
Yellow-top ACD tube – 2 days ambient.
Turn Around Time
10 - 14 days‡
†Receipt of a blood specimen is required to perform hemoglobin evaluation and Hexosaminidase A enzyme analysis for Tay-Sachs disease. DNA analysis for hemoglobinopathies and Tay-Sachs disease will be performed on all specimen types.
‡Carrier testing for fragile X is not performed in males. Reflexive Xpansion Interpreter® testing is provided for female carriers of 55 – 90 CGG repeats.