Hereditary Sensory and Autonomic Neuropathy Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10357 ATL1 81406,81479 Order Options and Pricing
ATL3 81479,81479
CCT5 81479,81479
CLTCL1 81479,81479
DNMT1 81479,81479
DST 81479,81479
ELP1 81479,81479
FLVCR1 81479,81479
KIF1A 81479,81479
NGF 81479,81479
NTRK1 81479,81479
POLG 81406,81479
PRDM12 81479,81479
RAB7A 81405,81479
RETREG1 81479,81479
SCN11A 81479,81479
SCN9A 81479,81479
SPTLC1 81479,81479
SPTLC2 81479,81479
WNK1 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10357Genes x (20)81479 81405, 81406, 81479 $960 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.


Genetic Counselors


Clinical Features and Genetics

Clinical Features

Hereditary sensory and autonomic neuropathy (HSAN) is a heterogeneous group of slowly-progressing neurological diseases characterized by progressive dysfunction of peripheral sensory nerves. The main feature of this disorder is the loss of large myelinated and unmyelinated nerve fibers (Auer-Grumbach, 2013. PubMed ID: 23931820; Kurth, 2015. PubMed ID: 26219509; Mroczek et al., 2015. PubMed ID: 26232991). Based on clinical features, age at onset, mode of inheritance and causative genes, HSAN can be subdivided into seven distinct types, HSAN1-7 (Rotthier et al., 2012. PubMed ID: 22270030; UpToDate). There are a few cases that do not fit well into this classification.

HSAN1 is the most common type of HSAN, and its main clinical features are loss of pain and temperature sensation with adolescence or adult onset. HSAN1 manifests progressive degeneration of dorsal root ganglion (DRG), leading to distal sensory loss (Houlden et al., 2006. PubMed ID: 16364956). Some patients also have variable defects of autonomic and motor systems (Rotthier et al., 2012. PubMed ID: 22270030). The symptoms of HSAN2 can be similar to that in HSAN1, but HSAN2 usually develops in infancy or early childhood (Indo, 2014. PubMed ID: 20301726).

HSAN3, also known as familial dysautonomia or Riley-Day syndrome, occurs almost solely in children of Ashkenazi Jewish decent. This disorder is characterized by episodes of dysautonomic crises, such as nausea and vomiting. These crises are usually triggered by emotional and physical stress (Shohat et al., 1993. PubMed ID: 20301359).

HSAN4 is also called congenital insensitivity to pain with anhidrosis (CIPA). Sense of touch and vibration are usually normal. Intellectual disability and episodic hyperthermia are also observed in some affected individuals. HSAN5 has marked clinical overlap with HSAN4, however, in HSAN5 patients anhidrosis is less obvious (Indo, 2014. PubMed ID: 20301726).

HSAN6 is characterized by muscle weakness, feeding and respiratory difficulties, and delay in psychomotor development. Autonomic dysfunctions in some patients include lack of corneal reflexes and labile cardiovascular function (Edvardson et al., 2012. PubMed ID: 22522446).

HSAN7 is characterized by congenital indifference to pain. Muscular weakness, gastrointestinal dysfunction, hyperhidrosis and intolerance to moderate heat have also been found in affected patients (Leipold et al. 2013; Woods et al. 2015).

Due to the clinically and genetically heterogeneous features and lack of simple diagnostic measures, HSAN is frequently misdiagnosed. Molecular genetic testing is particular useful to reach an accurate diagnosis.


Hereditary sensory and autonomic neuropathy can be inherited in an autosomal dominant (AD) or autosomal recessive (AR) manner. The ATL1, ATL3, DNMT1, RAB7A, SCN11A, STPLC1 and SPTLC2 genes are related to AD HASN. AR forms of HSAN involve the CCT5, CLTCL1, DST, RETREG1/FAM134B, FLVCR1, ELP1/IKBKAP, KIF1A, NGF, NTRK1, POLG, PRDM12, SCN9A and WNK1 genes. See individual gene test descriptions for information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

It is difficult to estimate the clinical sensitivity of this test due to the lack of large cohort studies. This panel analyzes 20 genes, including the most common genetic causes of Hereditary Sensory and Autonomic Neuropathy (HSAN). To increase the clinical sensitivity, the genes identified most recently are also included.

Clinical sensitivity of this test is expected to be low because relatively few gross deletions/insertions/duplications have been reported in these genes (Human Gene Mutation Database).

Testing Strategy

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

This panel typically provides 99.6% 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

Candidates for this test are patients with clinical symptoms consistent with sensory and autonomic neuropathy.


Official Gene Symbol OMIM ID
ATL1 606439
ATL3 609369
CCT5 610150
CLTCL1 601273
DNMT1 126375
DST 113810
ELP1 603722
FLVCR1 609144
KIF1A 601255
NGF 162030
NTRK1 191315
POLG 174763
PRDM12 616458
RAB7A 602298
RETREG1 613114
SCN11A 604385
SCN9A 603415
SPTLC1 605712
SPTLC2 605713
WNK1 605232
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test



  • Auer-Grumbach, 2013. PubMed ID: 23931820
  • Edvardson et al., 2012. PubMed ID: 22522446
  • Houlden et al., 2006. PubMed ID: 16364956
  • Human Gene Mutation Database (Bio-base).
  • Indo, 2014. PubMed ID: 20301726
  • Kurth, 2015. PubMed ID: 26219509
  • Leipold et al., 2013. PubMed ID: 24036948
  • Mroczek et al., 2015. PubMed ID: 26232991
  • Rotthier et al., 2012. PubMed ID: 22270030
  • Shohat et al., 1993. PubMed ID: 20301359
  • UpToDate (
  • Woods et al., 2015. PubMed ID: 25118027


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

loading Loading... ×


View Ordering Instructions

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.

Total Price: $
Copy Text to Clipboard