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CAH (21-Hydroxylase Deficiency) Common Mutations, Fetal Cells
Test Code91680
CPT Codes
81402
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.
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 (preferred): 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.
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 (preferred): 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
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
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
Set up: Tues; Report available: 1-2 weeks
Clinical Significance
This test detects the presence or absence of 11 common mutations in the CYP21A2 gene associated with 21-hydroxylase deficient congenital adrenal hyperplasia (CAH) in a fetus. Parental variants must be known and included on this panel; parental reports must be provided to the laboratory with or prior to submission of fetal sample. Parental concurrent testing is also strongly recommended if parental testing was not performed at Quest Diagnostics (see Test codes CAH common mutations and CAH (21-Hydroxylase deficiency), Gene Sequencing. Please contact Quest genetic counselor at 866-436-3453 to discuss test coordination prior to submitting a fetal sample.
The common mutations included in this panel are: c.92C>T (p.Pro31Leu, P30L); c.293-13C>G (Intron 2G); c.332_339del8 (p.Gly111Valfs*21, G110del8nt); c.518T>A (p.lle173Asn, I172N); the Exon 6 Cluster (c.710T>A (p.lle237Asn, I236N), c.713T>A (p.Val238Glu, V237E), and c.719T>A (p.Met240Lys, M239K)); c.844G>T (p.Val282Leu, V281L), c.923dupT (p.Leu308 Phefs*6, F306+T); c.955C>T (p.Gln319*, Q318X); c.1069C>T (p.Arg357Trp, R356W); c.1360C>T (p.Pro454Ser, P453S); and CYP21A2*7 (30 kb deletion). Please note that the description/nomenclature of these mutations may vary from laboratory to laboratory. For full gene sequencing of CYP21A2, see CAH (21-Hydroxylase Deficiency), Gene sequencing.
Please call GeneInfo at 866-436-3463 to speak to a Quest genetic ounselor for assistance or questions.
The common mutations included in this panel are: c.92C>T (p.Pro31Leu, P30L); c.293-13C>G (Intron 2G); c.332_339del8 (p.Gly111Valfs*21, G110del8nt); c.518T>A (p.lle173Asn, I172N); the Exon 6 Cluster (c.710T>A (p.lle237Asn, I236N), c.713T>A (p.Val238Glu, V237E), and c.719T>A (p.Met240Lys, M239K)); c.844G>T (p.Val282Leu, V281L), c.923dupT (p.Leu308 Phefs*6, F306+T); c.955C>T (p.Gln319*, Q318X); c.1069C>T (p.Arg357Trp, R356W); c.1360C>T (p.Pro454Ser, P453S); and CYP21A2*7 (30 kb deletion). Please note that the description/nomenclature of these mutations may vary from laboratory to laboratory. For full gene sequencing of CYP21A2, see CAH (21-Hydroxylase Deficiency), Gene sequencing.
Please call GeneInfo at 866-436-3463 to speak to a Quest genetic ounselor for assistance or questions.
Performing Laboratory
Quest Diagnostics Nichols Institute
33608 Ortega Highway
San Juan Capistrano, CA 92675-2042
Last Updated: November 6, 2024
