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Integrin Alpha 7-Related Congenital Myopathy via the ITGA7 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
11401 ITGA7 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11401ITGA781479 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

Integrin α7β1 is an integral structural component of the sarcolemma that binds laminin, thus connecting the basal lamina to the intracellular space (Muntoni and Voit. Neuromusc Disord 14:635-649, 2004). The integrin alpha 7 gene (ITGA7; OMIM 600536) encodes the α7 subunit of the integrin α7β1 heterodimer. In an Itga7 knockout mouse model, integrin α7β1 was confirmed to be essential in linking the extracellular matrix to the intracellular space of the muscle fiber independently of a similar linkage through the dystrophin-glycoprotein complex (Mayer et al. Nat Genet 17:318-323, 1997). The α7 subunit, which is expressed in skeletal and cardiac muscle (Song et al. J Cell Biol 117:643-657, 1992), may be critical for differentiation and migration processes during myogenesis. Variants in ITGA7 have been found in a small set of patients with congenital myopathy (Hayashi et al. Nat Genet 19:94-97, 1998). Motor milestones were delayed in three reported patients; for example, one child was able to roll over at 9 months of age and walk at 2.5 years but was not able to run or jump. Another could walk independently at 2.1 years and demonstrated a waddling gait and Gower’s sign. This same patient could not run or climb stairs independently. The third child was able to walk at age 5 years but only with support. Other findings in these patients included hypotonia and torticollis from birth and mildly elevated serum CK (163 IU/L, 236 IU/L, 528 IU/L). Cognitive impairment was evident in one of the three patients, although, the etiology was not known. Evaluation of muscle biopsies showed deficient integrin α7 but normal lamin α2, along with mild variation in fiber size, substantial fatty replacement, and little evidence of a dystrophic process.

Genetics

Congenital myopathy due to integrin α7 deficiency is inherited as an autosomal recessive condition. Three ITGA7 variants, consisting of two splice site variants and one single base deletion, have been reported to date (Hayashi et al. 1998). If a muscle biopsy is available, immunostaining for integrin α7 may also be an appropriate diagnostic approach.

Clinical Sensitivity - Sequencing with CNV PGxome

Congenital myopathy due to integrin α7 deficiency is probably a rare disorder. Hayashi et al. (1998) found three cases when they screened 117 patients with unclassified congenital myopathy or congenital muscular dystrophy by immunocytochemistry. The three patients were Japanese.

Testing Strategy

This test provides full coverage of all coding exons of the ITGA7 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

Individuals with symptoms consistent with congenital myopathy and autosomal recessive inheritance. Symptomatic individuals with mildly elevated serum CK levels and muscle biopsies demonstrating decreased immunoreactivity to integrin α7 and normal laminin α2 reactivity. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ITGA7.

Gene

Official Gene Symbol OMIM ID
ITGA7 600536
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Hayashi YK, Chou FL, Engvall E, Ogawa M, Matsuda C, Hirabayashi S, Yokochi K, Ziober BL, Kramer RH, Kaufman SJ, Ozawa E, Goto Y, et al. 1998. Mutations in the integrin alpha7 gene cause congenital myopathy. Nat. Genet. 19: 94–97. PubMed ID: 9590299
  • Mayer U, Saher G, Fässler R, Bornemann A, Echtermeyer F, Mark H von der, Miosge N, Pöschl E, Mark K von der. 1997. Absence of integrin alpha 7 causes a novel form of muscular dystrophy. Nat. Genet. 17: 318–323. PubMed ID: 9354797
  • Muntoni F, Voit T. 2004. The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscul. Disord. 14: 635–649. PubMed ID: 15351421
  • Song WK, Wang W, Foster RF, Bielser DA, Kaufman SJ. 1992. H36-alpha 7 is a novel integrin alpha chain that is developmentally regulated during skeletal myogenesis. The Journal of cell biology 117: 643–657. PubMed ID: 1315319

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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