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Andermann Syndrome via the SLC12A6 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
4947 SLC12A6 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
4947SLC12A681479 81479(x2) $640 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.

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Renee Bend, PhD

Clinical Features and Genetics

Clinical Features

Andermann Syndrome or Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) is a neurodevelopmental and neurodegenerative disorder associated with dysmorphic features. The disorder is characterized by severe progressive sensorimotor neuropathy with resulting hypotonia, areflexia, and amyotrophy and variable degrees of dysgenesis of the corpus callosum. Mild-to-severe intellectual disability and "psychotic episodes" during adolescence are observed. Sensory modalities are moderately to severely affected beginning in infancy. The average age of onset of walking is 3.8 years; the average age of loss of walking is 13.8 years while the average age of death is 33 years (Dupré et al. 2003).

Genetics

Andermann syndrome has a high prevalence of 1 in 2000 newborns in the French Canadian population in the Charlevoix and Saguenay-Lac-Saint-Jean region of Quebec (Uyanik et al. 2006) and is inherited as an autosomal recessive disorder.

The SLC12A6 gene is the only gene with mutations known to be causative for Andermann syndrome. The SLC12A6 gene codes for a potassium-chloride cotransporter which is involved in moving charged potassium (K) and chloride (Cl) ions across the cell membrane. While the specific function of the K-Cl cotransporter produced from the SLC12A6 gene is unknown, it seems to be critical for the development and maintenance of nerve tissue. Most reported causative mutations in SLC12A6 are truncating and missense mutations (Uyanik et al. 2006; Howard et al. 2002). The lack of functional protein normally produced from the SLC12A6 gene is believed to interfere with the development of the corpus callosum and maintenance of the nerves that transmit signals needed for movement and sensation, resulting in the signs and symptoms of Andermann syndrome.

Clinical Sensitivity - Sequencing with CNV PG-Select

Molecular genetic testing by sequencing of SLC12A6 detects more than 90% of disease-causing mutations. In particular, the c.2436delG mutation is the one found in almost all (>99%) individuals of French-Canadian descent and has a clinical sensitivity of 100%.

Testing Strategy

This test provides full coverage of all coding exons of the SLC12A6 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Individuals with clinical manifestations including severe progressive sensorimotor neuropathy with resulting hypotonia, areflexia, and amyotrophy or those that have a variable degree of dysgenesis of the corpus callosum as determined by MRI would be candidates for SLC12A6 testing (Dupré et al. 2003). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SLC12A.

Gene

Official Gene Symbol OMIM ID
SLC12A6 604878
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Andermann Syndrome AR 218000

Citations

  • Dupré N, Howard HC, Mathieu J, Karpati G, Vanasse M, Bouchard J-P, Carpenter S, Rouleau GA. 2003. Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. Ann. Neurol. 54: 9–18.
    PubMed ID: 12838516
  • Howard HC, Mount DB, Rochefort D, Byun N, Dupré N, Lu J, Fan X, Song L, Rivière J-B, Prévost C, Horst J, Simonati A, et al. 2002. The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat. Genet. 32: 384–392. PubMed ID: 12368912
  • Uyanik G, Elcioglu N, Penzien J, Gross C, Yilmaz Y, Olmez A, Demir E, Wahl D, Scheglmann K, Winner B, Bogdahn U, Topaloglu H, et al. 2006. Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome. Neurology 66: 1044–1048. PubMed ID: 16606917

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

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) 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.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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