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Test Catalog
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HSD3B2 DNA Sequencing Test |
#878 |
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| Type of Disorder: |
Adrenal |
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| Typical Presentation: |
Genetic XY males present with ambiguous genilatia; Genetic XX females may have ambiguous genitalia, and later, premature adrenarche or amenorrhea; Salt wasting and non-salt wasting forms; The mild (non-classic) form shows subtle clinical symptoms of androgen excess. |
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| Indications for Testing: |
Ambiguous genitalia in infants; premature adrenarche; Hirsutism and/or oligomenorrhea in women; family history of congenital adrenal hyperplasia |
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| Disease(s) tested for: |
Congenital Adrenal Hyperplasia |
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| Test Details |
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| Test Code: |
878 |
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| Informed Consent Required: |
Yes |
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| Technical Information |
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| Utility: |
Detects mutations in coding sequence of HSD3B2, including point mutations, small deletions, insertions and rearrangements |
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| Methodology: |
Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding region of the gene |
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| Reference Value: |
No mutation detected |
| CPT Coding |
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The CPT codes provided 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 payer being billed.
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| Stacked CPT Code(s): |
83891(1), 83898(5), 83904(5), 83909(5), 83912(1)
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| CPT 2013: |
81404(1) |
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| Shipping Considerations |
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| Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form. |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10 mL (pediatric minimum 2 mL) |
| Collection Tube: |
Lavender top (EDTA) or yellow top (ACD-A) |
| Stability: |
Hemolysis may compromise DNA recovery and integrity after 48 hours |
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| Storage Conditions: |
For short periods (until shipped) At 4?C |
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| Shipping Conditions: |
Overnight at room temperature (specimen arrival must be less than 24 hrs after collection); ship Monday through Thursday only. |
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| Test Turnaround: |
28 days |
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