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Test ID: ISNP Inherited Sensory Neuropathy Gene Panel, Varies


Ordering Guidance


Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.

 

Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.



Shipping Instructions


 



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.

 

Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: None

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 4 days/Frozen 4 days

Additional Information:

1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.

2. To ensure minimum volume and concentration of DNA is met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.

 

Specimen Type: Saliva

Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.

Supplies: Saliva Swab Collection Kit (T786)

Specimen Volume: 1 Swab

Collection Instructions: Collect and send specimen per kit instructions.

Specimen Stability Information: Ambient (preferred) 30 days/Refrigerated 30 days

Additional Information: Saliva specimens are acceptable but not recommended. Due to lower quantity/quality of DNA yielded from saliva, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be required to complete testing.

 

Specimen Type: Extracted DNA

Container/Tube:

Preferred: Screw Cap Micro Tube, 2 mL with skirted conical base

Acceptable: Matrix tube, 1 mL

Collection Instructions:

1. The preferred volume is at least 100 mcL at a concentration of 75 ng/mcL.

2. Include concentration and volume on tube.

Specimen Stability Information: Frozen (preferred) 1 year/Ambient/Refrigerated

Additional Information: DNA must be extracted in a CLIA-certified laboratory or equivalent and must be extracted from a specimen type listed as acceptable for this test (including applicable anticoagulants). Our laboratory has experience with Chemagic, Puregene, Autopure, MagnaPure, and EZ1 extraction platforms and cannot guarantee that all extraction methods are compatible with this test. If testing fails, one repeat will be attempted, and if unsuccessful, the test will be reported as failed and a charge will be applied. If applicable, specific gene regions that were unable to be interrogated due to DNA quality will be noted in the report.


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file.

The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Molecular Genetics: Neurology Patient Information

3. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.

Useful For

Establishing a molecular diagnosis for patients with hereditary sensory (HSN) and autonomic neuropathy (HSAN)

 

Identifying variants within genes known to be associated with HSN and HSAN, allowing for predictive testing of at-risk family members

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 23 genes associated with hereditary sensory neuropathy: AIFM1, ATL1, ATL3, CLCF1, CLTCL1, COX20, CRLF1, DNMT1, DST, ELP1, GLA, KIF1A, NGF, NTRK1, PRDM12, PRKCG, RETREG1, SCN10A, SCN11A, SCN9A, SPTLC1, SPTLC2, and WNK1. For more information see Method Description and Targeted Genes and Methodology Details for Inherited Sensory Neuropathy Gene Panel.

 

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for hereditary sensory neuropathy.

Method Name

Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

Sensory Neuropathy Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Clinical Information

The hereditary sensory and autotomic neuropathies (HSAN), or hereditary sensory neuropathies (HSN) if autonomic dysfunction is absent, are one of the major categories of inherited peripheral neuropathies. They predominantly feature slowly progressive loss of multimodal sensation and autonomic dysfunction. The HSAN have a range of phenotypes from pure sensory involvement through phenotypes with levels of motor involvement and minor autonomic disturbances, to almost pure autonomic neuropathies. The most common features of HSAN include the loss of sensation of pain and temperature.

 

The hereditary sensory and autotomic neuropathies are subdivided into types 1 through 5 based on age of onset, inheritance pattern, and clinical features. HSAN type 1 follows an autosomal dominant inheritance pattern with juvenile through adult onset. Clinically this group is variable but can include severe sensory loss and autonomic dysfunction. HSAN type 2 follows an autosomal recessive inheritance pattern with onset in infancy or early childhood. This group is predominantly a sensory neuropathy with distal numbness and progressive loss of pain, temperature, and touch sensation. Motor involvement is not common in patients with HSAN type II. HSAN type 3 is also called familial dysautonomia and has autosomal recessive inheritance. Patients present with prominent, widespread autonomic disturbances, as well as small-fiber sensory dysfunction. HSAN type 4 is also called congenital insensitivity to pain with anhidrosis and has autosomal recessive inheritance. HSAN type 5 strongly resembles HSAN type 4, but patients show hypohidrosis instead of anhidrosis and do not have intellectual disability.

Reference Values

An interpretive report will be provided.

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424

2. Schwartzlow C, Kazamel M. Hereditary sensory and autonomic neuropathies: Adding more to the classification. Curr Neurol Neurosci Rep. 2019;19(8):52

3. Rotthier A, Baets J, Timmerman V, Janssens K. Mechanisms of disease in hereditary sensory and autonomic neuropathies. Nat Rev Neurol. 2012;8(2):73-85

4. Klein CJ. Charcot-Marie-Tooth disease and other hereditary neuropathies. Continuum (Minneap Minn). 2020;26(5):1224-1256

Day(s) Performed

Varies

Report Available

21 to 28 days

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81448

LOINC Code Information

Test ID Test Order Name Order LOINC Value
ISNP Sensory Neuropathy Gene Panel 103729-0

 

Result ID Test Result Name Result LOINC Value
617598 Test Description 62364-5
617599 Specimen 31208-2
617600 Source 31208-2
617601 Result Summary 50397-9
617602 Result 82939-0
617603 Interpretation 69047-9
618182 Additional Results 82939-0
617604 Resources 99622-3
617605 Additional Information 48767-8
617606 Method 85069-3
617607 Genes Analyzed 48018-6
617608 Disclaimer 62364-5
617609 Released By 18771-6

Testing Algorithm

For information see Hereditary Peripheral Neuropathy Diagnostic Algorithm.

Mayo Clinic Laboratories | Genetics and Genomics Additional Information:

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