Achondroplasia Mutation Analysis

Test Code
16061


CPT Codes
81401

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.


Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube


Minimum Volume
3 mL


Other Acceptable Specimens
Whole blood collected in: EDTA (royal blue-top), sodium heparin (green-top), ACD solution B (yellow-top) or ACD solution A (yellow-top) tube • 20 mL amniotic fluid • Amniocyte or CVS culture • Dissected chorionic villi (CVS) biopsy • Extracted DNA (reference ranges do not apply)


Instructions
Whole blood (preferred): Normal phlebotomy procedure. Specimen stability is crucial. Store and ship immediately. Do not freeze. For prenatal diagnosis, call the laboratory.

Amniotic fluid (acceptable): Submit 20 mL. Normal collection procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze.

Amniocyte or CVS culture (acceptable): 2 sterile T25 flasks, filled with culture medium. Specimen stability is crucial. Store and ship immediately.

Dissected chorionic villi (CVS) biopsy (acceptable): 10-20 mg dissected CVS collected in sterile tube filled with sterile culture medium. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze.

Extracted DNA: Please call 1-866-GENE-INF (1-866-436-3463) for additional information.


Transport Temperature
Room temperature


Specimen Stability
Whole blood
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable

Amniotic fluid
Room temperature: 8 days
Refrigerated: Unacceptable
Frozen: Unacceptable


Methodology
Polymerase Chain Reaction (PCR) • Single Nucleotide Primer Extension

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
Set up: As needed; Report available: 12-13 days


Reference Range
See Laboratory Report


Clinical Significance
1. Prenatal diagnosis of Achondroplasia when one or both of the parents have Achondroplasia.
2. To determine if a fetus has Achondroplasia when an ultrasound shows abnormal bone structure.
3. To confirm a phenotypically diagnosed case of Achondroplasia.


Performing Laboratory
Quest Diagnostics Nichols Institute-San Juan Capistrano, CA
33608 Ortega Highway
San Juan Capistrano, CA 92675-2042




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.