Kallmann Syndrome via the KAL1(ANOS1) Gene
Summary and Pricing 
Test Method
Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture ProbesTest Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
---|---|---|---|---|---|
4553 | ANOS1 | 81406 | 81406,81479 | $990 | Order Options and Pricing |
Pricing Comments
This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
Testing run on PG-Select capture probes does not include exome-wide CNV analysis. Reflex is available to PGxome or an exome-based panel, or you can use this gene list to create a custom panel (click here).
Click here for costs to reflex to whole PGxome.
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 this migratory pathway of GnRH and olfactory neurons from the nasal region into the hypothalamus is disrupted.
Kallmann syndrome is characterized by an impaired sense of smell (hyposmia or anosmia) alongside delayed or absent puberty. It is also characterized by a variety of nonreproductive anomalies including involuntary upper limb mirror movements (bimanual synkinesis), abnormal eye movements, congenital ptosis, abnormal visual spatial attention, hearing impairment, agenesis of the corpus callosum, unilateral (occasionally bilateral) renal agenesis, cleft lip or palate, agenesis of one or several teeth (hypodontia), obesity and other less observed anomalies. The degree of both the hypogonadism and the smell deficiency vary significantly even within affected family members.
Kallmann syndrome 1 is an X-linked recessive disorder caused by defects in the KAL1(ANOS1) gene. Since it is X-linked recessive and the ANOS1 gene escapes X-inactivation, there is not convincing evidence that ANOS1 mutations cause KS in females (Layman 2013).
Genetics
Kallmann syndrome 1 is an X-linked recessive disorder caused by defects in the ANOS1 gene. The ANOS1 gene has 14 coding exons that encode the extracellular glycoprotein anosmin-1 (ANOS1). Genetic defects of ANOS1 include missense, nonsense, splicing site mutations and small indels. Large deletions and duplication are commonly found within the ANOS1 gene or encompassing multiple genes including ANOS1 (Human Gene Mutation Database).
Clinical Sensitivity - Sequencing with CNV PG-Select
The prevalence of ANOS1 mutations has been estimated to be 5–10% in males KS patients (both sporadic and familial) and much higher (30-70%) in the clearly X-linked recessive families (Layman 2013). Given that large deletions and duplications are common in the ANOS1 region, ANOS1 mutation detection rate through sequencing is expected to be lower than this number.
Testing Strategy
This test provides full coverage of all coding exons of the ANOS1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.
Indications for Test
Candidates for this test are male patients with Kallmann syndrome in X-linked recessive families. Testing is also indicated for family members of patients who have known ANOS1 mutations.
Candidates for this test are male patients with Kallmann syndrome in X-linked recessive families. Testing is also indicated for family members of patients who have known ANOS1 mutations.
Gene
Official Gene Symbol | OMIM ID |
---|---|
ANOS1 | 300836 |
Inheritance | Abbreviation |
---|---|
Autosomal Dominant | AD |
Autosomal Recessive | AR |
X-Linked | XL |
Mitochondrial | MT |
Disease
Name | Inheritance | OMIM ID |
---|---|---|
Kallmann Syndrome 1 | XL | 308700 |
Related Tests
Name |
---|
CHARGE and Kallmann Syndromes Panel |
Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel |
Kallmann Syndrome (KS) Panel |
Citations 
- Human Gene Mutation Database (Bio-base).
- Layman LC. 2013. Clinical genetic testing for Kallmann syndrome. J. Clin. Endocrinol. Metab. 98: 1860–1862. PubMed ID: 23650337
- Layman LC. 2013. The genetic basis of female reproductive disorders: etiology and clinical testing. Mol. Cell. Endocrinol. 370: 138–148. PubMed ID: 23499866
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
Specimen Types
Specimen Requirements and Shipping Details
ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
STAT and Prenatal Test Options are not available with Patient Plus.
No Additional Test Options are available for this test.