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  • Test code: 03352
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit
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Invitae Hereditary Parkinson Disease and Parkinsonism Panel

Test description

The Invitae Hereditary Parkinson Disease and Parkinsonism Panel analyzes genes that are associated with Parkinson’s disease and related conditions involving parkinsonian features. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. These genes were curated based on the available evidence to date to provide analysis for Parkinson disease. Given the clinical overlap of Parkinson disease, broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Some genes in this test may also be associated with additional unrelated disorders, which are not included in the list of disorders tested. Genetic testing of these genes may help confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials.

This test includes targeted analysis of 19 of the most common pathogenic variants in the GBA gene, which are associated with increased risk of late-onset Parkinson’s disease.

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Primary panel (26 genes)

ATP13A2 ATP7B CHCHD2 CSF1R DCTN1 DNAJC6 FBXO7 GBA GCH1 LRRK2 PARK7 PDE8B PINK1 PLA2G6 PRKN PRKRA RAB39B SLC6A3 SNCA SPR SYNJ1 TH TMEM230 VPS13C VPS35 XPR1

Add-on Preliminary-evidence Genes for Hereditary Parkinson Disease and Parkinsonism (3 genes)

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future.

MAPT PODXL UCHL1

Alternative tests to consider

Broad disorder tested:

  • Parkinson Disease

Individual disorders tested:

  • dopa-responsive dystonia (DRD)
  • dystonia 16 (DYT16)
  • Gaucher disease, late-onset Parkinson disease
  • hereditary diffuse leukoencephalopathy with spheroids (HDLS)
  • idiopathic basal ganglia calcification 6 (IBGC6)
  • infantile parkinsonism-dystonia (PKDYS)
  • Kufor-Rakeb syndrome (KRS), Parkinson disease 9 (PARK9)
  • Parkinson disease 1 (PARK1), Parkinson disease 4 (PARK4),
    dementia with Lewy bodies (DLB)
  • Parkinson disease 15 (PARK15)
  • Parkinson disease 17 (PARK17)
  • Parkinson disease 19 (PARK19)
  • Parkinson disease 2 (PARK2)
  • Parkinson disease 20 (PARK20)
  • Parkinson disease 22 (PARK22)
  • Parkinson disease 23 (PARK23)
  • Parkinson disease 6 (PARK6)
  • Parkinson disease 7 (PARK7)
  • Parkinson disease 8 (PARK8)
  • Perry syndrome, distal hereditary motor neuropathy type VIIB
    (HMN7B), amyotrophic lateral sclerosis 1 (ALS1)
  • PLA2G6-associated neurodegeneration (PLAN), neuroaxonal
    dystrophy (NAD), Parkinson disease 14 (PARK14)
  • sepiapterin reductase deficiency
  • striatal degeneration
  • TMEM230-associated Parkinson disease
  • tyrosine hydroxylase (TH) deficiency
  • Waisman syndrome
  • Wilson disease

To view the complete clinical description of this panel, click here.

Parkinson disease can be inherited in an autosomal dominant, autosomal recessive, or X-linked pattern.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ATP13A2 NM_022089.3
ATP7B NM_000053.3
CHCHD2 NM_016139.2
CSF1R NM_005211.3
DCTN1 NM_004082.4
DNAJC6 NM_001256864.1
FBXO7 NM_012179.3
GBA* NM_001005741.2
GCH1 NM_000161.2
LRRK2 NM_198578.3
MAPT NM_005910.5
PARK7 NM_007262.4
PDE8B NM_003719.3
PINK1 NM_032409.2
PLA2G6 NM_003560.2
PODXL NM_005397.3
PRKN NM_004562.2
PRKRA NM_003690.4
RAB39B NM_171998.3
SLC6A3 NM_001044.4
SNCA NM_000345.3
SPR NM_003124.4
SYNJ1 NM_003895.3
TH NM_199292.2
TMEM230* NM_001009923.1
UCHL1 NM_004181.4
VPS13C NM_020821.2
VPS35 NM_018206.4
XPR1 NM_004736.3

GBA: c.84dupG (p.Leu29Alafs*18), c.115+1G>A (Splice donor), c.222_224delTAC (p.Thr75del), c.475C>T (p.Arg159Trp), c.595_596delCT (p.Leu199Aspfs*62), c.680A>G (p.Asn227Ser), c.721G>A (p.Gly241Arg), c.754T>A (p.Phe252Ile), c.1226A>G (p.Asn409Ser), c.1246G>A (p.Gly416Ser), c.1263_1317del (p.Leu422Profs*4), c.1297G>T (p.Val433Leu), c.1342G>C (p.Asp448His), c.1343A>T (p.Asp448Val), c.1448T>C (p.Leu483Pro), c.1504C>T (p.Arg502Cys), c.1505G>A (p.Arg502His), c.1603C>T (p.Arg535Cys), c.1604G>A (p.Arg535His) variants only. Sensitivity to detect these variants if they result from complex gene conversion events may be reduced.
TMEM230: Sequencing analysis is not offered for exon 2.