MYH9-Related Disorders via the MYH9 Gene
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 11491 | MYH9 | 81479 | 81479,81479 | $990 | 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 platform).
Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).
The Sanger Sequencing method for this test is NY State approved.
For Sanger Sequencing click here.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
Variants in the MYH9 gene are responsible for a group of related thrombocytopenias: May-Hegglin anomaly (OMIM 155100), Sebastian syndrome (OMIM 605249), Fechtner syndrome (OMIM 153640), and Epstein syndrome (OMIM 153650). These disorders are characterized by mild to severe thrombocytopenia (10-100 per nl) with large-sized platelets (Seri et al. Medicine 82:203-215, 2003). Other clinical features may include high tone deafness, cataracts, leukocyte inclusions, and kidney disease leading in some cases to renal failure. MYH9 variants may also cause autosomal dominant deafness type 17 (DFNA17) (OMIM 603622) (Lalwani et al. Am J Hum Genet 67:1121-1128, 2000).
Genetics
May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, Epstein syndrome, and DFNA17 are all autosomal dominant disorders. The MYH9 gene encodes the non-muscle myosin heavy chain, class IIA. Most causative MYH9 variants reported to date have been missense, although in-frame deletions of a few amino acids, nonsense, and frameshift variants have also been reported (Pecci et al. Hum Mut 29:409-417, 2008). All of the nonsense and frameshift variants are located in exon 41. Altogether, over 50 causative MYH9 variants have been documented. Some causative variants have occurred de novo, and at least one large deletion, encompassing exon 26, has been reported (Kunishima et al. Eur J Haematol 80:540-544, 2008). Genotype-phenotype connections are beginning to be made (Dong et al. Brit J Haematol 130:620-627, 2005; Pecci et al. Hum Mut 29:409-417, 2008). Variants near the 3’ end of the gene are often associated with blood phenotypes only, whereas variants near the 5’ end of the gene are also associated with kidney disease and deafness.
Clinical Sensitivity - Sequencing with CNV PGxome
Sensitivity of this test is unknown.
Testing Strategy
This test provides full coverage of all coding exons of the MYH9 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
All patients with clinical features of MYH9-related disorders and family history consistent with dominant inheritance are candidates for this test.
All patients with clinical features of MYH9-related disorders and family history consistent with dominant inheritance are candidates for this test.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| MYH9 | 160775 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Diseases
| Name | Inheritance | OMIM ID |
|---|---|---|
| Deafness, Autosomal Dominant 17 | AD | 603622 |
| Epstein Syndrome | 153650 | |
| Fechtner Syndrome | 153640 | |
| May-Hegglin Anomaly | AD | 155100 |
| Sebastian Syndrome | 605249 |
Citations
- Dong, F., et.al. (2005). "Genotype-phenotype correlation in MYH9-related thrombocytopenia." Br J Haematol 130(4): 620-7. PubMed ID: 16098078
- Kunishima, S., et.al. (2008). "Identification and characterization of the first large deletion of the MYH9 gene associated with MYH9 disorders." Eur J Haematol 80(6): 540-4. PubMed ID: 18284620
- Lalwani, A. K., et.al. (2000). "Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9." Am J Hum Genet 67(5): 1121-8. PubMed ID: 11023810
- Pecci, A., et.al. (2008). "Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease." Hum Mutat 29(3): 409-17. PubMed ID: 18059020
- Seri, M., et.al. (2003). "MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness." Medicine (Baltimore) 82(3): 203-15. PubMed ID: 12792306
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
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
PGxome (Exome) Sequencing Panel
PGnome (Genome) Sequencing Panel
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ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.