CAH (21-Hydroxylase Deficiency) Common Mutations, Fetal Cells

Test Code

91680

CPT Codes
81402

Physician Attestation of Informed Consent

This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.

Includes

If amniotic fluid or chorionic villi sampling (CVS) is received, then an additional charge will be added for cell culture work (CPT code(s): 88235) if not already ordered

Preferred Specimen

10 mL amniotic fluid collected in a sterile plastic leak-proof container

Minimum Volume

10 mL amniotic fluid • 10 mg chorionic villi

Other Acceptable Specimens

10 mg chorionic villi collected in a sterile tube filled with sterile culture media • Cultured cells collected in each of two separate sterile T-25 flasks, 75% confluent

Instructions

Do not hold specimen; Forward to laboratory when specimen arrives.

Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; Forward to laboratory when sample arrives.

1. Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission.
2. Documentation of parental carrier status must be provided.
3. It is required that maternal cell contamination study, str analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test.

Amniocyte or chorionic villus (CVS) culture: Two sterile T-25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; Forward to laboratory when cells arrive.

Dissected chorionic villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in sterile tube, filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; Forward to laboratory when sample arrives.

Transport Container

Sterile plastic leak-proof container

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

Do not reject

Methodology
Electrophoresis • Minisequencing • Polymerase Chain Reaction (PCR)

FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule

Tues

Report Available

7-14 days

Reference Range

See Laboratory Report

Clinical Significance

Prenatal Diagnosis of CAH 21-OH Deficiency.

Performing Laboratory

Quest Diagnostics Nichols Institute-San Juan Capistrano, CA

33608 Ortega Highway

San Juan Capistrano, CA 92675-2042

Last Updated: November 6, 2024

The CPT Codes provided in this document 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 payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.