Test Name & Code: • Test Name: Molecular Karyotyping • Test Code: 3698 Related Diseases & Genes: -not applicable- Synonyms: -none- Test Details: • Methodology: Array CGH • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA • Specimen Volume/Amount: > 5 ml • Storage/Transport Condition:...
Test Name & Code: • Test Name: Congenital Adrenal Hypoplasia Deletion Analysis • Test Code: 3371 Related Diseases & Genes: • “ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM; AHCH” (OMIM #: 300200)|| Gene: NR0B1 (OMIM #: 300473) • “46,XY SEX REVERSAL 2; SRXY2” (OMIM #: 300018) Synonyms: • DAX1 • “46,XY SEX REVERSAL, DAX1-RELATED” • DOSAGE-SENSITIVE...
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