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Hereditary Sensory Neuropathy, Type IE via the DNMT1 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
DNMT1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11253DNMT181479 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

Hereditary sensory neuropathy type IE (HSN1E, OMIM 614116) was first described in a multi-generational American family with adult-onset distal sensory impairment and subsequent progressive memory and sensorineural hearing loss. Onset of dementia occurred between the second and fourth decades of life and death occurred in the fifth and sixth decades of life (Wright and Dyck, Neurology 45:560-562, 1995). A sibship of affected individuals from Japan has also been reported with early adulthood-onset peripheral sensory neuropathy, followed by hearing loss and progressive dementia (Hojo et al. Europ J Neurol 6:357-361, 1999). Neuropathology studies showed almost complete loss of myelinated nerve fibers and moderate loss of unmyelinated fibers and brain imaging revealed frontal atrophy. In affected individuals from both published families no autonomic or motor symptoms were present. Two other HSN1E families were reported with development of sensorineural deafness and sensory neuropathy between 20 and 35 years of age (Klein et al. Nat Genet 43:595-600, 2011). Brain imaging showed cerebral atrophy and other studies were consistent with a length-dependent progressive sensory axonal loss. Sensory loss often leads to painless trauma and ulcerations of the extremities and subsequent amputations of distal extremities in approximately half of patients (Klein. GeneReviews 2012).


Hereditary sensory neuropathy type IE is inherited as an autosomal dominant disorder. To date only two variants of the DNMT1 gene (OMIM 126375) have been reported in four unrelated families (Klein et al. Nat Genet 42:595- 600, 2011). Three American families and one Japanese family were found to have a c.1532A>G (p.Tyr511Cys) variant and two European families were found to have a c.1518_1520delTCCinsATA (p.Asp506_Pro507delinsGluTyr) variant. Both variants are located within the targeting-sequence domain of DNMT1 (amino acids p.Pro306_Ile620, exons 12-22).

Clinical Sensitivity - Sequencing with CNV PGxome

Too few cases of HSN1E have been reported to estimate clinical and analytical sensitivity.

Testing Strategy

This test provides full coverage of all coding exons of the DNMT1 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

Patients with adult onset peripheral sensory loss, progressive hearing loss, and early-onset dementia.


Official Gene Symbol OMIM ID
DNMT1 126375
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Neuropathy, Hereditary Sensory, Type IE AD 614116


  • Hojo et al. Europ J Neurol 6:357-361, 1999 PubMed ID: 10210919
  • Klein et al. Nat Genet 43:595-600, 2011 PubMed ID: 21532572
  • Wright and Dyck, Neurology 45:560-562, 1995 PubMed ID: 7898717


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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View Ordering Instructions

1) Select Test Method (Platform)

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2) Select Additional Test Options

No Additional Test Options are available for this test.

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