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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Glycogen Storage Disease Type Ia Mutation Analysis (Ashkenazi Jewish)
Test CodeCPT Codes
81250
Physician Attestation of Informed Consent
Preferred Specimen
Minimum Volume
Other Acceptable Specimens
Instructions
Do not hold specimen; forward to laboratory when specimen arrives.
Whole blood: Specimen stability is crucial. Store and ship 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 (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
Specimen Stability
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?)
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
Reference Range
Clinical Significance
2) To identify carriers in high risk ethnic groups or people with positive family history.
3) Prenatal diagnosis of Glycogen Storage Disease Type 1a for at risk couples.
Performing Laboratory
Quest Diagnostics Nichols Institute-San Juan Capistrano, CA |
33608 Ortega Highway |
San Juan Capistrano, CA 92675-2042 |