Hypogonadotropic Hypogonadism (HH) Panel / Sequencing and Deletion/Duplication Analysis of 14 Genes

Test details
Genes	CHD7 FGF8 FGFR1 GNRH1 GNRHR KAL1 KISS1 KISS1R NR0B1 NSMF (NELF) PROK2 PROKR2 TAC3 TACR3
Medical Speciality	Disorders of Sex Differentiation
Disorders	46,XY Disorder of Sex Development Adrenal Hypoplasia Congenita (AHC), X-linked CHARGE Syndrome Hypogonadotropic Hypogonadism (HH) Kallmann Syndrome
Clinical Utility	Molecular confirmation of a clinical diagnosis To assist with decisions about treatment and management of individuals with HH Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies

Ordering
Test Code	GD676
Turn Around Time	4 weeks
Collection Instructions	LAV: Fill lavender-top (EDTA) tube completely, invert 8-10 times. DO NOT SHAKE TUBE!

BILLING
ICD CODES	253.4 OTHER ANTERIOR PITUITARY DISORDERS 257.2 OTHER TESTICULAR HYPOFUNCTION 781.1 DISTURBANCES OF SENSATION OF SMELL AND TASTE 255.2 ADRENOGENITAL DISORDERS

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