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Nemaline Myopathy With Cores (NEM6) via the KBTBD13 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
KBTBD13 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8905KBTBD1381479 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.


Genetic Counselors


  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

Variants in the gene encoding Kelch repeat and BTB/POZ domainscontaining protein-13 (KBTBD13; OMIM 613727) are one cause of autosomal dominant nemaline myopathy (NEM6; OMIM 609273). NEM is a genetically and clinically heterogeneous disorder characterized by muscle weakness, hypotonia, and the presence of nemaline bodies in skeletal muscle fibers. Muscle weakness is typically observed in affected neonates or infants, although later onset cases are reported (Ryan et al. Ann Neurol 50:312-320, 2001). The most severely-affected muscle groups are proximal limb, facial, bulbar, and respiratory muscles. Deep tendon reflexes are absent or depressed. Histologically, NEM is characterized by type 1 fiber predominance and the presence of rod-like structures called nemaline bodies upon Gomori trichrome staining of skeletal muscle (Ryan et al. Neurology 60:665-673, 2003). Six clinical types of NEM have been delineated based on age of onset, severity and distribution of weakness, and respiratory function (Ryan et al. 2001; North and Ryan. GeneReviews, 2009). KBTBD13-related nemaline myopathy has been described in a small number of patients with normal early motor development followed by childhood onset of slowly progressive proximal muscle weakness and exercise intolerance (Olive et al. Muscle Nerve 42:901-907, 2010; Sambuughin et al. Am J Hum Genet 87:842-847, 2010). Notable complaints from patients include feelings of muscle slowness or stiffness, and slow response times to falls (Gommans et al. Neuromusc Disord 12:13-18, 2002). Respiratory or cardiac muscles are not affected by NEM6. The disease is mildly progressive although there are no reports of wheelchair-bound patients. Histopathologic changes seen on skeletal muscle biopsy include nemaline rods, cores, loss of myofibrillar organization, and predominance of hypertrophic type 1 fibers.


Nemaline myopathy is a genetically heterogeneous disorder and variants in ACTA1 (NEM3) and NEB (NEM2) are the only relatively common causes (Ryan et al. 2001). Heterozygous variants in the KBTBD13 gene have been found in a small number of patients with a relatively constant clinical phenotype (Sambuughin et al. Am J Hum Genet 87:842-847, 2010). NEM6 is inherited as an autosomal dominant disorder secondary to KBTBD13 variants.

Clinical Sensitivity - Sequencing with CNV PGxome

KBTBD13-related nemaline myopathy (NEM6) is likely a rare disorder. Thus far only a small number of patients have been reported.

Testing Strategy

This test provides full coverage of all coding exons of the KBTBD13 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 the childhood-onset nemaline myopathy, autosomal dominant inheritance, and negative studies for the more common causes of this disorder.


Official Gene Symbol OMIM ID
KBTBD13 613727
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Nemaline Myopathy 6 AD 609273


  • Gommans, I. M., et.al. (2002). "A new phenotype of autosomal dominant nemaline myopathy." Neuromuscul Disord 12(1): 13-8. PubMed ID: 11731279
  • Kathryn North, Monique M Ryan (2009). "Nemaline Myopathy."
  • Olive, M., et.al. (2010). "Nemaline myopathy type 6: clinical and myopathological features." Muscle Nerve 42(6): 901-7. PubMed ID: 21104864
  • Ryan MM, Ilkovski B, Strickland CD, Schnell C, Sanoudou D, Midgett C, Houston R, Muirhead D, Dennett X, Shield LK, Girolami U De, Iannaccone ST, Laing NG, North KN, Beggs AH. 2003. Clinical course correlates poorly with muscle pathology in nemaline myopathy. Neurology 60: 665–673. PubMed ID: 12601110
  • Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST, Laing NG, Beggs AH, North KN. 2001. Nemaline myopathy: a clinical study of 143 cases. Ann. Neurol. 50: 312–320. PubMed ID: 11558787
  • Sambuughin, N., et.al. (2010). "Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores." Am J Hum Genet 87(6): 842-7. PubMed ID: 21109227


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