Idiopathic Hypogonadotropic Hypogonadism (IHH) via the KISS1R Gene
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 8753 | KISS1R | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).
Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).
The Sanger Sequencing method for this test is NY State approved.
For Sanger Sequencing click here.Turnaround Time
3 weeks on average for standard orders or 2 weeks on average for STAT orders.
Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.
Targeted Testing
For ordering sequencing of targeted known variants, go to our Targeted Variants page.
Clinical Features and Genetics
Clinical Features
Idiopathic hypogonadotropic hypogonadism (IHH) is a group of reproductive disorders due to gonadotropin-releasing hormone (GnRH) deficiency (Layman 2013). IHH is characterized by absent or incomplete pubertal development, low levels of circulating gonadotropins and testosterone, and no other abnormalities of the hypothalamic-pituitary axis. IHH can be divided into two major phenotypes: normosmic hypogonadotropic hypogonadism (nHH), in which hypothalamic GnRH gene regulation or GnRH synthesis, secretion, or signaling is impaired; and Kallmann syndrome (KS), in which the migratory pathway of GnRH and olfactory neurons from the nasal region into the hypothalamus is disrupted. Defects in the kisspeptin receptor encoded by the KISS1R gene cause nHH.
Genetics
KISS1R-associated nHH is an autosomal recessive disorder (Layman 2013; Seminara et al. 2003; de Roux N et al. 2003). The KISS1R gene has 5 coding exons that encode the kisspeptin receptor. Kisspeptin stimulates GnRH-induced gonadotropin secretion and regulates the pubertal activation of GnRH nuerons. Genetic defects in KISS1R include missense, nonsense, splicing mutations, and small indels. Exon-level large deletions have also been found, but are uncommon in this gene (Human Gene Mutation Database).
Clinical Sensitivity - Sequencing with CNV PGxome
The prevalence of KISS1R pathogenic variants has been estimated to be approximately 1.2% in normosmic hypogonadotropic hypogonadism (nHH) patients (Layman 2013).
Exon-level large deletions have been found, but are uncommon in this gene (Human Gene Mutation Database).
Testing Strategy
This test provides full coverage of all coding exons of the KISS1R gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).
Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).
Indications for Test
Candidates for this test are patients with autosomal recessive normosmic hypogonadotropic hypogonadism (nHH). Testing is also indicated for family members of patients who have known KISS1R mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in KISS1R.
Candidates for this test are patients with autosomal recessive normosmic hypogonadotropic hypogonadism (nHH). Testing is also indicated for family members of patients who have known KISS1R mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in KISS1R.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| KISS1R | 604161 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Hypogonadotropic Hypogonadism 8 with or without Anosmia | AR | 614837 |
Related Test
| Name |
|---|
| Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel |
Citations
- de Roux N, Genin E, Carel J-C, Matsuda F, Chaussain J-L, Milgrom E. 2003. Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. Proceedings of the National Academy of Sciences 100: 10972-10976. PubMed ID: 12944565
- Human Gene Mutation Database (Bio-base).
- Layman LC. 2013. The genetic basis of female reproductive disorders: etiology and clinical testing. Mol. Cell. Endocrinol. 370: 138–148. PubMed ID: 23499866
- Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno Jr JS, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF Jr, Aparicio SA, Colledge WH. 2003. The GPR54 gene as a regulator of puberty. New England Journal of Medicine 349: 1614-1627. PubMed ID: 14573733
Ordering/Specimens
Ordering Options
We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.
myPrevent - Online Ordering
- The test can be added to your online orders in the Summary and Pricing section.
- Once the test has been added log in to myPrevent to fill out an online requisition form.
- PGnome sequencing panels can be ordered via the myPrevent portal only at this time.
Requisition Form
- A completed requisition form must accompany all specimens.
- Billing information along with specimen and shipping instructions are within the requisition form.
- All testing must be ordered by a qualified healthcare provider.
For Requisition Forms, visit our Forms page
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
PGxome (Exome) Sequencing Panel
PGnome (Genome) Sequencing Panel
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ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.