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Kallmann Syndrome

  • KAL1
  • FGFR1
Kallmann syndrome (KS) is typically characterized by hypogonadotropic hypogonadism and anosmia, or deficiency in the sense of smell. Mutations in four genes have been shown to be associated with KS. In males, mutation in the X-linked KAL1 gene is associated with the classic genital and olfactory features of Kallmann syndrome, and in some cases, renal agenesis. This is known as Type 1 Kallmann syndrome (KAL1). Type 2 Kallmann syndrome (KAL2) is caused by mutation in the autosomal FGFR1 gene and consequently orofacial clefting and hypodontia can be seen in KAL2 patients. Overall, about 20-30% of Kallmann syndrome cases are due to mutation in these genes with 10-20% associated with KAL1 mutation and 10% due to FGFR1 mutation. In addition, mutations in the PROKR2 and PROK2 genes have been recently associated with autosomal dominant KS and each account for approximately 5% of KS cases. Sequencing of these genes is not available at GeneDx. Sequencing of the KAL1 and FGFR1 genes is offered as separate tests. Family and/or clinical history information should be utilized whenever possible to determine which test is appropriate for the patient. Analysis of KAL1 is warranted in all MALES with Kallmann syndrome (idiopathic hypogonadotropic hypogonadism (IHH) AND anosmia/hyposmia). If negative for KAL1, FGFR1 analysis is recommended. Analysis of FGFR1 is warranted in all FEMALES with KS and all MALES and FEMALES with IHH and a normal sense of smell.

Using genomic DNA obtained from buccal (cheek) swabs or blood (5 cc in EDTA), bi-directional sequence of the coding region and splice junctions of the KAL1 gene (exons 1-14) or FGFR1 gene (exons 1-18) is analyzed. Carrier testing and prenatal diagnosis is available once the mutation in the family has been defined.

Testing for Kallmann syndrome at GeneDx is partially supported by the CETT (Collaboration, Education and Test Translation) Program, an effort aimed at improving genotype-phenotype correlations. We kindly request that you submit the clinical data sheet along with the patient sample. For additional information about research being conducted at the Reproductive Endocrine Unit at Massachusetts General Hospital, please click here.

Clinical Data Sheet  
Information Sheet, including prices and CPT codes Back to the List
Consent Document  
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options  
Kallman syndrome; Kalmann Syndrome; Kallmann Syndrome, Type 1; KAL1; Kallmann Syndrome, Type 2; KAL2; KS; Hypogonadotropic hypogonadism; IHH; Anosmia; Hyposomia; Cryptorchidism; Hypogonadism; Microphallus; Infertility; Amenorrhea; Renal agenesis; Cleft palate; Hypodontia; GnRH deficiency

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