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Invitae Mendelian Disorders with Psychiatric Symptoms Panel

Test code: 06228

Test description

The Invitae Mendelian Disorders with Psychiatric Symptoms Panel analyzes genes that are associated with metabolic disorders and neurologic conditions that can present with psychiatric symptoms. These symptoms can include: altered mental status, confusion, coma, impaired executive functioning, mood disorders, dissociative episodes, decline in cognitive ability, delusions, visual/auditory hallucinations, and schizophrenia-like or psychotic episodes. Genetic testing of these genes may confirm the diagnosis of an underlying metabolic disorder and help guide treatment and management of the condition. These genes were selected based on the available evidence to date to provide a broad panel. Mendelian disorders with psychiatric symptoms are genetically heterogeneous, and broad panel testing allows for an efficient evaluation of many potentially relevant genes based on a single clinical indication. Additionally, the identification of disease-causing variants provides accurate risk assessment and determines carrier status for relatives. Please note that this panel does not evaluate repeat expansions or mitochondrial DNA (mtDNA). Additionally, this assay does not include genes associated with small multifactorial risks for psychiatric disease, but rather focuses on genes that are known to cause Mendelian conditions that result in psychiatric symptoms.

Disorders tested

Ordering information

Turnaround time:

10–21 calendar days (14 days on average)

New York approved:

Yes

Preferred specimen:

3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)

Alternate specimens:

Saliva, buccal swab, and gDNA are also accepted.
Learn more about specimen requirementsRequest a specimen collection kit

Clinical description

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

Clinical description

Assay 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.

Assay information

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You can customize this test by clicking genes to remove them.

Primary panel

167 genes selected
ABCB4
ABCD1
ADSL
ALAD
ALDH5A1
AMACR
AMT
ANK3
AP1S1
ARG1
ARSA
ARX
ASL
ASS1
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Select add-on genes
40 genes

The Add-on Adult Onset Neurodegenerative Disorders Panel analyzes genes that are associated with metabolic disorders and neurologic conditions that can present with psychiatric symptoms in adulthood. These symptoms can include: altered mental status, confusion, coma, impaired executive functioning, mood disorders, dissociative episodes, decline in cognitive ability, delusions, visual/auditory hallucinations, and schizophrenia-like or psychotic episodes. A subset of these conditions can also be associated with physical features, such as movement disorders, eye abnormalities and hepatosplenomegaly. Genetic testing of these genes may confirm the diagnosis of an underlying metabolic disorder and help guide treatment and management of the condition. These genes were selected based on the available evidence to date to provide a broad panel. Mendelian disorders with psychiatric symptoms are genetically heterogeneous, and broad panel testing allows for an efficient evaluation of many potentially relevant genes based on a single clinical indication. Additionally, the identification of disease-causing variants provides accurate risk assessment and determines carrier status for relatives. Please note that this panel does not evaluate repeat expansions or mitochondrial DNA (mtDNA). Genes associated with porphyria are not included on this panel, but can be ordered on a separate panel. Additionally, this assay does not include genes associated with small multifactorial risks for psychiatric disease, but rather focuses on genes that are known to cause Mendelian conditions that result in psychiatric symptoms. *Individuals under the age of 18 should undergo comprehensive pre-test genetic counseling before considering genetic testing for adult-onset neurodegenerative disorders. For more information on genetic testing in minors, please refer to the "(external)ASHG position statement":http://www.cell.com/ajhg/abstract/S0002-9297(15)00236-0.*

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