Kallmann Syndrome & Hypogonadotropic Hypogonadism Sequencing Panel

Test Information

Turnaround Time

8 weeks

CPT Code(s)

81404 x 2, 81405, 81406 x 2, 81407, 81479




  • ANOS1
  • AXL
  • CCDC141
  • CHD7
  • DUSP6
  • FEZF1
  • FGF17
  • FGF8
  • FGFR1
  • FLRT3
  • FSHB
  • GNRH1
  • HESX1
  • HS6ST1
  • IL17RD
  • KISS1
  • KISS1R
  • LEP
  • LEPR
  • LHB
  • LHX3
  • LHX4
  • NR0B1
  • NSMF
  • PCSK1
  • POLR3B
  • PROK2
  • PROKR2
  • PROP1
  • SEMA3A
  • SEMA3E
  • SOX10
  • SOX2
  • SPRY4
  • SRA1
  • TAC3
  • TACR3
  • WDR11

Clinical Information

This panel consists of 39 genes that have been associated with Kallmann syndrome (KS) and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). These conditions are characterized by delayed or absent puberty due to decreased production and/or function of gonadotropin-releasing hormone. The majority of affected individuals are diagnosed at puberty due to the abnormal development of secondary sex characteristics. However, infant males with KS and nIHH often present with cryptorchidism and micropenis. Abnormalities in the sense of smell, including hyposmia or anosmia, is frequently observed in KS. Additional clinical features include renal agenesis, cleft palate, sensorineural hearing loss, dental agenesis, abnormal eye and hand movements, and abnormalities of the bones in the hands and feet. When left untreated, adult males tend to have decreased bone density, muscle mass and libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Confirmation of pathogenic variants can assist in early detection and hormone replacement treatment to induce puberty, secondary sex development, and fertility in patients with KS and nIHH.


Molecular testing is useful to confirm the diagnosis and to identify the disease-causing mutations within a family to allow for carrier testing.


Next Generation Sequencing

Specimen Requirements

The preferred sample type is peripheral blood collected in an EDTA (purple top) tube - at least 2-3ml for pediatric patients and 5-6ml for adult patients. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC

Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two. At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words. She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it. Then she suddenly stopped all of that. At her 2 year old check-up, the pediatrician referred us to BabyNet, SC’s early interve...

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