DNA icon

Heat Shock 22 kDa Protein-Related Disorders via the HSPB8 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
9159 HSPB8 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9159HSPB881479 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

Charcot-Marie-Tooth disease type 2L (CMT2L; OMIM 608673) and distal hereditary motor neuronopathy type IIA (HMN2A; OMIM 158590) represent a phenotypic continuum of distal neuropathy with weakness and wasting starting in the distal limbs. In CMT2L distal sensory loss is evident while in HMN2A it is not, thus differentiating the two disorders (Irobi et al. Nat Genet 36:597-601, 2004). Among eighteen affected members of the first reported CMT2L family, clinical signs of lower limb weakness first appeared between 15 and 33 years of age (Tang et al. Hum Genet 114:527-533, 2004). Most affected individuals had symmetric muscle wasting and weakness of the distal lower limbs, absent or decreased deep tendon reflexes, and mild to moderate sensory loss. Upper limb weakness and wasting developed subsequent to lower limb involvement in one third of the patients. Most affected family members had high-arched feet. All affected elderly family members were severely affected, but none were wheelchair bound. Four families who displayed exclusively lower motor neuron disease with HSPB8 variants have also been described (Timmerman et al. J Neurol Sci 109:41-48, 1992; Timmerman et al. Hum Mol Genet 5:1065-1069, 1996; Irobi et al. 2004). Disease onset is between 15 and 25 years of age, and paresis of the great toe extensor muscles was found to be the presenting sign (Irobi et al. 2004). Foot extensor muscles are eventually affected and disease progression is rapid, culminating in paralysis of the distal muscles of the lower legs.

Genetics

A family demonstrating autosomal dominant inheritance of axonal type Charcot-Marie-Tooth disease (Tang et al. Hum Genet 114:527-533, 2004) was later found to have a missense variant in the gene that encodes the heat shock 22 kDa protein (HSPB8, OMIM 608014; Tang et al. Hum Genet 116:222-224, 2005). Similarly, a small number of families with distal hereditary motor neuronopathy were also found to have HSPB8 variants (Timmerman et al. 1996; Irobi et al. 2004). HSPB8-related CMT and distal HMN are inherited as autosomal dominant disorders, and two missense variants affecting the same amino acid residue (p.Lys141Asn and p.Lys141Glu) have thus far been identified.

Clinical Sensitivity - Sequencing with CNV PGxome

HSPB8 is probably a rare cause of the axonal form of CMT and distal HMN.

Testing Strategy

This test provides full coverage of all coding exons of the HSPB8 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 clinical symptoms consistent with a distal neuropathy with or without distal sensory loss.

Gene

Official Gene Symbol OMIM ID
HSPB8 608014
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Irobi, J., et.al. (2004). "Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy." Nat Genet 36(6): 597-601. PubMed ID: 15122253
  • Irobi, J., et.al. (2004). "Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy." Nat Genet 36(6): 597-601. PubMed ID: 15122253
  • Tang, B. S., et.al. (2004). "A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24." Hum Genet 114(6): 527-33. PubMed ID: 15021985
  • Tang, B. S., et.al. (2004). "A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24." Hum Genet 114(6): 527-33. PubMed ID: 15021985
  • Tang, B. S., et.al. (2005). "Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L." Hum Genet 116(3): 222-4. PubMed ID: 15565283
  • Timmerman, V., et.al. (1992). "Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree." J Neurol Sci 109(1): 41-8. PubMed ID: 1517763
  • Timmerman, V., et.al. (1996). "Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24." Hum Mol Genet 5(7): 1065-9. PubMed ID: 8817349
  • Timmerman, V., et.al. (1996). "Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24." Hum Mol Genet 5(7): 1065-9. PubMed ID: 8817349

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

loading Loading... ×

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: $
×
Copy Text to Clipboard
×