Distal Hereditary Motor Neuropathy Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10353 AARS1 81479,81479 Order Options and Pricing
ATP7A 81479,81479
BICD2 81479,81479
BSCL2 81406,81479
DCTN1 81479,81479
DNAJB2 81479,81479
DYNC1H1 81479,81479
FBXO38 81479,81479
GAN 81479,81479
GARS1 81406,81479
HINT1 81479,81479
HSPB1 81404,81479
HSPB3 81479,81479
HSPB8 81479,81479
IGHMBP2 81479,81479
LAS1L 81479,81479
REEP1 81405,81479
SETX 81406,81479
SIGMAR1 81479,81479
SLC5A7 81479,81479
SYT2 81479,81479
TRPV4 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10353Genes x (22)81479 81404, 81405, 81406, 81479 $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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

Clinical Features and Genetics

Clinical Features

Distal hereditary motor neuropathy (dHMN) is a clinically and genetically heterogeneous group of disorders characterized by progressive distal motor weakness and atrophy. The weakness is usually greater in the distal lower limbs than the upper limbs, and weakness of the toe extensor muscles is often the presenting sign. Nerve conduction velocities are generally normal in dHMN, and sensory impairment is not a feature of this disorder. Subtypes of dHMN can be differentiated to some extent based on age of onset, pattern of weakness, rate of progression, and appearance of additional complicating features. For discussions on classification, pathophysiology, and molecular genetics of dHMN see Irobi et al. (2004. PubMed ID: 15358725) and Drew et al. (2011. PubMed ID: 21902652).

Genetics

Distal hereditary motor neuropathies can be inherited as autosomal dominant, autosomal recessive, or X-linked conditions. Genes that are involved in dominantly inherited dHMN include AARS1/AARS, BICD2, DYNC1H1, FBXO38, HSPB1, HSPB3, HSPB8, SETX, GARS1/GARS, BSCL2, SLC5A7, SYT2, DCTN1, TRPV4, and REEP1. Recessively inherited forms of dHMN are caused by pathogenic variants in the DNAJB2, IGHMBP2, GAN, HINT1 and SIGMAR1 genes. Two X-linked forms are also known (ATP7A and LAS1L).

See individual gene test descriptions for information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical sensitivity cannot be estimated as data do not yet exist. Analytical sensitivity is expected to be high as nearly all pathogenic variants for this disorder are detectable by sequencing. Analytical sensitivity specifically for the IGHMBP2 gene may be lower as gross deletions have been reported.

Clinical sensitivity is expected to be low for these genes because relatively few copy number variations have been reported.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel provides 100% coverage of all coding exons of the genes 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 coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Individuals with clinical features consistent with distal hereditary motor neuropathy.

Genes

Official Gene Symbol OMIM ID
AARS1 601065
ATP7A 300011
BICD2 609797
BSCL2 606158
DCTN1 601143
DNAJB2 604139
DYNC1H1 600112
FBXO38 608533
GAN 605379
GARS1 600287
HINT1 601314
HSPB1 602195
HSPB3 604624
HSPB8 608014
IGHMBP2 600502
LAS1L 300964
REEP1 609139
SETX 608465
SIGMAR1 601978
SLC5A7 608761
SYT2 600104
TRPV4 605427
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Amyotrophic Lateral Sclerosis 16, Juvenile AR 614373
Charcot-Marie-Tooth Disease Type 2C AD 606071
Charcot-Marie-Tooth Disease Type 2D AD 601472
Charcot-Marie-Tooth Disease Type 2F AD 606595
Charcot-Marie-Tooth Disease, Axonal, Type 2O AD 614228
Charcot-Marie-Tooth Disease, Type 2L AD 608673
Charcot-Marie-Tooth Disease, Type 2N AD 613287
Distal Hereditary Motor Neuronopathy Type 2A AD 158590
Distal Hereditary Motor Neuronopathy Type 2B AD 608634
Distal Hereditary Motor Neuronopathy Type 5 AD 600794
Giant Axonal Neuropathy AR 256850
Mental Retardation, Autosomal Dominant 13; MRD13 AD 614563
Myasthenic Syndrome, Congenital, 7, Presynaptic AD 616040
Neuromyotonia and axonal neuropathy, autosomal recessive AR 137200
Neuronopathy, Distal Hereditary Motor, Type VIIB AD 607641
Neuronopathy, Distal Hereditary Motor, Type IIC AD 613376
Neuronopathy, Distal Hereditary Motor, Type IID AD 615575
Neuronopathy, Distal Hereditary Motor, Type VB AD 614751
Neuronopathy, Distal Hereditary Motor, Type VIIA AD 158580
Neuropathy, Hereditary Sensory, Type IE AD 614116
Perry Syndrome AD 168605
Scapuloperoneal Spinal Muscular Atrophy AD 181405
Spastic Paraplegia 17 AD 270685
Spinal Muscular Atrophy With Respiratory Distress 1 AR 604320
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 AR 614881
Spinal Muscular Atrophy, Distal, Congenital Nonprogressive AD 600175
Spinal Muscular Atrophy, Distal, X-Linked 3 XL 300489
Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant; SMALED AD 158600
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2 AD 615290
Spinocerebellar Ataxia Autosomal Recessive 1 AR 606002

Related Test

Name
PGxome®

Citations

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.

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

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ORDER OPTIONS

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