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Test Code ISPP Inherited Spastic Paraplegia 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 preferred to arrive within 96 hours of collection.



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.

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

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)/Refrigerated

Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.


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.

Secondary ID

617610

Useful For

Establishing a molecular diagnosis for patients with hereditary spastic paraplegia

 

Identifying variants within genes known to be associated with hereditary spastic paraplegia, 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 128 genes associated with hereditary spastic paraplegia: ABCD1, ACO2, AFG3L2, ALDH18A1, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOPT1 (COA8), ARG1, ARL6IP1, ASNS, ATL1, AUH, B4GALNT1, BICD2, BOLA3, BSCL2, C12orf65 (MTRFR), COQ7, CPT1C, CTC1, CTSD, CYP27A1, CYP2U1, CYP7B1, DARS1, DARS2, DDHD1, DDHD2, DLD, EARS2, ENTPD1, ERLIN1, ERLIN2, EXOSC3, FA2H, FAR1, FARS2, FUCA1, FXN, GALC, GBA2, GBE1, GJC2, GLB1, GM2A, GPT2, HACE1, HEXA, HIBCH, HSPD1, HTRA1, IBA57, IFIH1, IRF2BPL, ISCA2, KDM5C, KIDINS220, KIF1A, KIF5A, L1CAM, L2HGDH, LYRM7, MAG, MARS2, MED17, MTFMT, NIPA1, NT5C2, NUBPL, OPA3, PANK2, PDHX, PEX16, PGAP1, PLA2G6, PLP1, PNP, PNPLA6, PNPLA8, PRF1, PRUNE1, PSAP, PYCR2, RAB18, RAB3GAP1, RAB3GAP2, RARS1, REEP1, REEP2, RNASEH2A, RNASEH2B, RNASEH2C, RTN2, SACS, SAMHD1, SDHAF1, SERAC1, SLC12A6, SLC16A2, SLC19A3, SLC33A1, SLC6A8, SOX2, SPART, SPAST, SPG11, SPG21, SPG7, SPTAN1, SUMF1, TACO1, TBC1D20, TECPR2, TFG, TREX1, TTC19, TYROBP, UBAP1, UBQLN2, VAMP1, VPS13D, WASHC5, ZFYVE26, and ZFYVE27. For more information see Method Description and Targeted Genes and Methodology Details for Inherited Spastic Paraplegia 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 spastic paraplegia.

Method Name

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

Reporting Name

Spastic Paraplegia Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Clinical Information

Hereditary spastic paraplegias (HSP) are a group of neurodegenerative disorders characterized by progressive lower extremity weakness and spasticity, both of which can be variable. Other common neurological symptoms include ataxia, cognitive impairment, neuropathy, seizures, and dysarthria. If onset of symptoms occurs in very early childhood, symptoms may be nonprogressive and resemble spastic digenic cerebral palsy. If the onset of symptoms occurs in later childhood or after, symptoms usually progress slowly and steadily.

 

Clinically HSP are classified in an uncomplicated or pure form and a complicated or complex form. The uncomplicated form presents with progressive lower-extremity spastic weakness, corticospinal tract signs, variable hypertonic urinary bladder disturbance, and disturbance in vibration sense and proprioception. The complicated form is characterized by the impairments present in uncomplicated HSP plus other system involvement or other neurologic findings. Additionally, the complicated form usually follows an autosomal recessive inheritance pattern, while the uncomplicated form predominantly follows an autosomal dominant inheritance pattern.

 

Given HSP are a heterogeneous group of disorders, multigene panels can be an efficient and cost-effective way to establish a molecular diagnosis for symptomatic individuals.

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.

Day(s) Performed

Varies

Report Available

21 to 35 days

Specimen Retention Time

Whole blood: 2 weeks (if available); Extracted DNA: 3 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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
ISPP Spastic Paraplegia Gene Panel 103730-8

 

Result ID Test Result Name Result LOINC Value
617611 Test Description 62364-5
617612 Specimen 31208-2
617613 Source 31208-2
617614 Result Summary 50397-9
617615 Result 82939-0
617616 Interpretation 69047-9
618183 Additional Results 82939-0
617617 Resources 99622-3
617618 Additional Information 48767-8
617619 Method 85069-3
617620 Genes Analyzed 48018-6
617621 Disclaimer 62364-5
617622 Released By 18771-6