Maple Syrup Urine Disease (MSUD) Mutation Analysis (Ashkenazi Jewish)

Test Code
90909


CPT Codes
81205

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-top) tube


Minimum Volume
3 mL whole blood • 3 mL bone marrow • 10 mL amniotic fluid • 10 mg dissected chorionic villus biopsy


Other Acceptable Specimens

Whole blood collected in: EDTA (royal blue-top) tube, ACD (yellow-top) tube, sodium heparin (green-top) tube, or lithium heparin (green-top) tube • Bone marrow collected: EDTA (lavender-top) tube

Fetal specimens: 10 mL amniotic fluid collected in a sterile plastic leak-proof container • Amniocyte or chorionic villus (CVS) culture cells collected in each of two sterile T25 flasks • 10 mg dissected chorionic villus (CVS) biopsy collected in a sterile tube filled with sterile culture media



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

Whole blood: Specimen stability is crucial. Store and ship at room 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: 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: 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: 10-20 mg dissected chorionic villi collected in a sterile tube, filled with sterile culture media. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.

Note: Do not reject. Forward to performing laboratory for evaluation of sample.


Transport Container
EDTA (lavender-top) tube


Transport Temperature
Room temperature


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

⁠⁠⁠⁠⁠⁠⁠Fetal specimens
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable


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
Mon, sat


Report Available
10-16 days


Reference Range
See Laboratory Report


Clinical Significance
1. To identify disease-causing mutations in Ashkenazi-Jewish individuals affected with Maple Syrup Urine Disease (MSUD).
2. To identify carriers in the Ashkenazi-Jewish population or in individuals with a positive family history.
3. Prenatal diagnosis of Maple Syrup Urine Disease in at-risk couples.


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.