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Early-Onset Myopathy, Areflexia, Respiratory Distress, and Dysphagia (EMARDD) via the MEGF10 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
11467 MEGF10 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11467MEGF1081479 81479(x2) $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

Early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD, OMIM 614399) presents at birth or during early infancy. The most serious symptoms are respiratory distress caused by diaphragmatic weakness and dysphagia, often necessitating gastrostomy feeding. Hartley et al. first reported this condition in two consanguineous sibships (Neuromusc Disord 17:174-179, 2007). The pregnancy of one patient was noted to be complicated by decreased fetal movements and growth retardation. Postnatally, the patient exhibited poor respiratory drive and eventually became ventilator-dependent. Other findings in these affected siblings included dependence on gastrostomy feeding tube, facial weakness, areflexia, and delays in walking. Involvement of the IGHMBP2 gene in these patients was ruled-out. Another small group of EMARDD patients was reported by Logan et al. (Nature Genet 43:1189-1192, 2011). Consistent with the clinical features of the previously described patients, all had respiratory distress caused by diaphragmatic paralysis at birth; all became ventilator-dependent; all had dysphagia; and all had areflexia. Hypotonia and muscle weakness were more prominent in the distal muscles of the upper limbs. EMG studies showed myopathic changes and skeletal muscle biopsies revealed small and incompletely-fused muscle fibers.

Genetics

Early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) is inherited as an autosomal recessive disorder caused by variants in the MEGF10 gene (OMIM 612453). MEGF10 encodes the multiple epidermal growth factor-like domains-10 protein, a regulator of satellite cell myogenesis. Thus far, five families have been reported with EMARDD, and protein truncating variants are the most common form of pathogenic changes in the MEGF10 gene (Logan et al. Nature Genet 43:1189-1192, 2011).

Clinical Sensitivity - Sequencing with CNV PGxome

Too few genetically-confirmed cases of EMARDD have been reported to estimate clinical sensitivity. Analytical sensitivity may be high because all reported variants are expected to be detected by this method.

Testing Strategy

This test provides full coverage of all coding exons of the MEGF10 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

Newborns with severe myopathy, respiratory distress secondary to diaphragmatic weakness, areflexia, and dysphagia. Because EMARDD and spinal muscular atrophy with respiratory distress type 1 (SMARD1; OMIM 604320) both display similar clinical features, testing of the IGHMBP2 gene should also be considered in these patients. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in MEGF10.

Gene

Official Gene Symbol OMIM ID
MEGF10 612453
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Hartley et al (2007). A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus. Neuromscul Disord 17(2): 174-179.
  • Logan et al. Nature Genet 43:1189-1192, 2011 PubMed ID: 22101682

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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