Prenatal Known Mutation Testing (PT2)

Information for Ordering

• Please provide fresh blood sample (3-6 ml, EDTA) for maternal cell contamination studies with (or in advance) of submitted specimen. A delay in receipt may delay turnaround time

• Direct CVS (minimum 10 mg pure villi)

• Direct amniotic fluid (minimum 10 ml fluid)

• 2 T25 flasks of cultured CVS (>70% confluent)

• 2 T25 flasks of cultured amniocytes (>70% confluent)

*Please Note: cultured cells are required for any multiexonic deletion/duplication targeted analysis

6 working days

$750 (USD- institutional/self-pay price)

CPT: 81403 and 81265

Z code: ZB67M

Patients who want to prepare for prenatal/pre-implantation diagnosis and for predictive testing for individuals at risk of inheriting an already known variant.

Please find specimen requirement specifications above.

All submitted specimens must be sent at room temperature. DO NOT ship on ice.

Specimens must be packaged to prevent breakage and absorbent material must be included in the package to absorb liquids in the event that breakage occurs. Also, the package must be shipped in double watertight containers (e.g. a specimen pouch + the shipping company’s diagnostic envelope).

To request a sample collection kit, please click here or email to complete the specimen request form.

Please contact the MGL (via email at, or via phone at 205-934-5562) prior to sample shipment and provide us with the date of shipment and tracking number of the package so that we can better ensure receipt of the samples.


We offer targeted detection of a previously characterized variant(s) within the family. From a fresh EDTA blood sample, DNA is extracted directly and the target region is amplified and directly sequenced. To offer this testing service, the proband’s variant must be identified by our laboratory before testing relatives.

REFERENCES available here.

Other related test options:

For more information, test requisition forms, or sample collection and mailing kits, please call: 205-934-5562.

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