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Lab Dept:
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Anatomic Pathology
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Test Name:
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CONGENITAL ADRENAL HYPOPLASIA (DAX1/NROB1) SEQUENCING
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General Information
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Lab Order Codes:
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DAX1
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Synonyms:
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X-Linked Adrenal Hypoplasia Sequencing; NROB1 Sequencing; DAX1 Sequencing
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CPT Codes:
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81404 – Molecular Pathology procedure, Level 5
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Test Includes:
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DNA sequence analysis of the entire gene encoding the nuclear receptor, subfamily 0, group B, member 1 (NR0B1, also known as DAX1) associated with X-linked adrenal hypoplasia congenita.
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Logistics
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Test Indications:
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Lab Testing Sections:
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Anatomic Pathology – Sendouts
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Referred to:
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All Children’s Hospital - Florida
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Phone Numbers:
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MIN Lab: 612-813-6280
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STP Lab: 651-220-6550
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Test Availability:
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Daily, 24 hours
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Turnaround Time:
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Results are reported in 2-3 weeks
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Special Instructions:
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Complete an All Children’s Request Form and send with the patient or sample to the lab.
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Specimen
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Specimen Type:
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Whole blood
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Container:
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Lavender top (EDTA) tube
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Draw Volume:
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1 mL blood
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Processed Volume:
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Same as Draw Volume
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Collection:
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Routine venipuncture
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Special Processing:
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Lab Staff: Do Not Centrifuge. Specimen should remain in the original collection container. Store and ship at ambient temperature.
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Patient Preparation:
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N/A
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Sample Rejection:
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Mislabeled or unlabeled specimens
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Interpretive
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Reference Range:
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Interpretive report
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Critical Values:
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N/A
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Limitations:
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N/A
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Methodology:
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DNA Sequence Analysis
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References:
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All Children’s Hospital Genetics April 2010
(800) 456-4543
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Updates:
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2/4/2013: CPT update
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