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/