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CODE
TEST NAME
GENES
DISEASE
SEE ALL RESULTS
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
MORE TEST DETAILS
https://www.genedx.com/test-catalog/available-tests/hypogonadotropic-hypogonadism-gene-sequencing-and-deldup-panel-1/