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Test Code PARDP Inherited Parkinson Disease Gene Panel, Varies


Ordering Guidance


Targeted testing for familial variants (also called site-specific or known variants 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 / 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

617675

Useful For

Establishing a molecular diagnosis for patients with Parkinson disease

 

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

Method Name

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

Reporting Name

Parkinson Disease 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

Parkinson disease is the second most common neurodegenerative movement disorder, and is characterized by rest tremor, muscle rigidity, bradykinesia, and postural instability. The most common nonmotor features include olfactory dysfunction, cognitive impairment, psychiatric symptoms, and autonomic dysfunction. Onset of disease is commonly around 60 years, but the juvenile form can have onset prior to age 20 years. Early-Parkinson disease has an onset between 20 to 50 years, and late-onset Parkinson disease occurs after age 50 years. The clinical diagnosis is based on parkinsonian motor features, namely bradykinesia plus rigidity and resting tremor. Parkinson disease results from interplay between nongenetic and genetic factors. Risk factors for Parkinson disease include sex, ethnicity, age, and environmental exposures. However, genetic factors are increasingly recognized as causative, with both known monogenic causes and susceptibility genes known.

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.

Method Description

Next-generation sequencing (NGS) and/or Sanger sequencing are performed to test for the presence of variants in coding regions and intron/exon boundaries of the genes analyzed, as well as some other regions that have known disease-causing variants. The human genome reference GRCh37/hg19 build was used for sequence read alignment. At least 99% of the bases are covered at a read depth over 30X. Sensitivity is estimated at above 99% for single nucleotide variants, above 94% for deletions-insertions (delins) less than 40 base pairs (bp), above 95% for deletions up to 75 bp and insertions up to 47 bp. NGS and/or a polymerase chain reaction-based quantitative method is performed to test for the presence of deletions and duplications in the genes analyzed.

 

There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. See Targeted Genes and Methodology Details for Inherited Parkinson Disease Gene Panel for details regarding the targeted genes analyzed for each test and specific gene regions not routinely covered.(Unpublished Mayo method)

 

Confirmation of select reportable variants may be performed by alternate methodologies based on internal laboratory criteria.

 

Genes analyzed: ADORA1, AHSA1, ANG, ANO3, APP, ATP13A2, ATP1A3, ATP6AP2, ATP7B, C19orf12, CHCHD2, CHMP2B, CLN3, CP, CSF1R, CYP27A1, DCAF17, DCTN1, DDC, DNAJB2, DNAJC12, DNAJC13, DNAJC6, DNM1L, EIF4G1, FBXO7, FTL, FUS, GBA, GCH1, GIGYF2, GRN, HTRA2, KIF5A, LRP10, LRRK2, LYST, MAPT, OPTN, PANK2, PARK7, PDE10A, PDE8B, PDGFB, PDGFRB, PEX1, PINK1, PLA2G6, PLD3, PODXL, POLG, POLG2, PRKAR1B, PRKN, PRKRA, PRRT2, PSEN1, PSEN2, PTRHD1, RAB29, RAB39B, RIC3, SIGMAR1, SLC18A2, SLC20A2, SLC30A10, SLC39A14, SLC6A3, SNCA, SNCB, SOD1, SPG11, SPR, SQSTM1, SYNJ1, TAF1, TAF15, TARDBP, TENM4, TH, THAP1, TMEM230, TOR1A, TUBA4A, TWNK, UBQLN2, UCHL1, UNC13A, VCP, VPS13A, VPS13C, VPS35, WDR45, and XPR1

 

Day(s) Performed

Varies

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

81403

81404 x 3

81405 x 4

81406 x 9

81407

81408

81479

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PARDP Parkinson Disease Gene Panel 103956-9

 

Result ID Test Result Name Result LOINC Value
617676 Test Description 62364-5
617677 Specimen 31208-2
617678 Source 31208-2
617679 Result Summary 50397-9
617680 Result 82939-0
617681 Interpretation 69047-9
618188 Additional Results 82939-0
617682 Resources 99622-3
617683 Additional Information 48767-8
617684 Method 85069-3
617685 Genes Analyzed 48018-6
617686 Disclaimer 62364-5
617687 Released By 18771-6