Niemann-Pick Disease Mutation Analysis

Test Code

90893

CPT Codes
81330<br />

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

4 mL Whole blood collected in an EDTA (lavender or royal blue-top), ACD (yellow-top), or sodium or lithium heparin (green-top) tube

Minimum Volume

3 mL Whole blood • 10 mg Chorionic villi

Other Acceptable Specimens

Bone marrow collected in an EDTA (lavender-top) tube • 10 mL amniotic fluid collected in a sterile, plastic, leak-proof container • 10 mg chorionic villi collected in a sterile tube filled with sterile culture media • cultured cells collected in each of two sterile T-25 flasks

Instructions

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

Whole blood: Specimen stability is crucial. Store and ship room at temperature immediately. Do not freeze.

For fetal testing:
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.

Amniotic fluid (acceptable): 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.
Amniocyte or Chorionic Villus (CVS) culture (acceptable): Two sterile T25 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 (acceptable): 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 Temperature

Room temperature

Specimen Stability

Whole blood and Bone marrow
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable

All other specimens
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable

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

Do not reject

Methodology
Polymerase Chain Reaction (PCR) • Next Generation Sequencing

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

A.M. Sets up 3 days a week.

Report Available

Reports in 6 days.

Limitations

The test detects four mutations that are responsible for approximately 95% of mutations common among Ashkenazi Jews.

Clinical Significance

Niemann-Pick Disease, a debilitating and fatal disease, is caused by an inherited deficiency of the enzyme acid sphingomyelinase. Niemann-Pick Disease is an autosomal recessive disease with a carrier rate of 1 in 90 among Ashkenazi Jews and a much lower carrier rate in other populations. Mutation analysis detects greater than 95% of mutations described in the Ashkenazi Jewish population.

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.