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Distal Hereditary Motor Neuropathy, Type 7A via the SLC5A7 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
11689 SLC5A7 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11689SLC5A781479 81479,81479 $890 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 backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

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

  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

Distal hereditary motor neuropathy type 7A (HMN 7A, OMIM 158580) was described by Young and Harper (J Neurol Neurosurg Psychiatry 43(5):413-418, 1980) in a 5 generation family presenting with a unique form of spinal muscular atrophy characterized by onset in the teens and vocal cord involvement. Progression of the disease was slow and unrelenting, leading to significant loss of function of the hands and impaired ambulation. Muscles of the upper distal extremities were affected first, followed by wasting and weakness of muscles of the lower extremities. Toe walking and high arched feet were noted and sensory involvement was absent. Affected family members experienced stiffness and curling of the fingers, painful cramps, and shortness of breath. Vocal cord paralysis was an almost universal finding. Vocal cord involvement ranged from hoarse voice to bilateral cord palsy to bilateral paralysis (Young, I.D. and Harper, P.S., 1980).

Genetics

Distal hereditary motor neuropathy type 7A is inherited as an autosomal dominant disorder. The SLC5A7 gene encodes a choline transporter which functions to supply choline at the neuromuscular junction. To date, only one mutation of the SLC5A7 gene (OMIM 608761) has been reported in one multigenerational family (Barwick, K.E. et al. Am J Hum Genet 91(6):1103-1107, 2012). The reported mutation imparts a dominant negative effect resulting in reduced choline uptake at the neuromuscular junction.

Clinical Sensitivity - Sequencing with CNV PGxome

Too few cases of HMN 7A have been reported to estimate clinical and analytical sensitivity.

Testing Strategy

This test provides full coverage of all coding exons of the SLC5A7 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

Patients with length-dependent neuropathy and vocal cord involvement.

Gene

Official Gene Symbol OMIM ID
SLC5A7 608761
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Neuronopathy, Distal Hereditary Motor, Type VIIA AD 158580

Citations

  • Barwick, K.E. et al. (2012). "Defective presynaptic choline transport underlies hereditary motor neuropathy."  Am J Hum Genet 91(6):1103-1107. PubMed ID: 23141292
  • Young, I.D. and Harper, P.S. (1980). "Hereditary distal spinal muscular atrophy with vocal cord paralysis." J Neurol Neurosurg Psychiatry 43(5):413-418. PubMed ID: 7420092

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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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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.
Total Price: $
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