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  • Test code: 06203
  • 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 Neurotransmitter Disorders Panel

Test description

The Invitae Neurotransmitter Disorders Panel analyzes genes that are associated with disorders of neurotransmitter metabolism, receptors, and transporters including:

  • disorders of monoamine synthesis, transport or metabolism
  • BH4 synthesis/recycling defects
  • disorders of GABA synthesis, transport or metabolism, and GABA receptors
  • defects in glutamate metabolism, receptor or transporter that affect the central nervous system
  • Vitamin B6 / Pyridoxine disorders
  • disorders of glycine metabolism with effect on the central nervous system including glycine cleavage system
  • Serine biosynthesis disorders

This panel may be appropriate for patients with abnormal findings on CSF neurotransmitter studies and/or neurological features that include a combination of dystonia, parkinsonism, autonomic and behavioral dysfunction, or oculogyric crises. These genes were selected based on the available evidence to date to provide a broad test for neurotransmitter disorders. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant could also guide testing and diagnosis of at-risk relatives.

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Primary panel (45 genes)

ABAT ALDH5A1 ALDH7A1 AMT ARHGEF9 ASNS ATAD1 DBH DDC DHFR DNAJC12 GABBR2 GABRA1 GABRA2 GABRB1 GABRB3 GABRG2 GAD1 GCH1 GLDC GLRA1 GLRB GOT2 GPHN GRIN2B GRIN2D MAOA PCBD1 PHGDH PNPO PROSC PSAT1 PSPH PTS QDPR SLC18A2 SLC1A2 SLC1A4 SLC25A22 SLC6A1 SLC6A3 SLC6A5 SLC6A9 SPR TH

  • GABA-transaminase deficiency
  • Succinic semialdehyde dehydrogenase deficiency (SSADH)
  • Glycine encephalopathy
  • Hereditary hyperekplexia, Early infantile epileptic encephalopathy 8 (EIEE8)
  • Asparagine synthetase deficiency (ASNS)
  • Hyperekplexia type 4 (HKPX4)
  • Dopamine beta-hydroxylase deficiency
  • Aromatic L-amino acid decarboxylase deficiency (AADC)
  • Megaloblastic anemia due to dihydrofolate reductase deficiency
  • Hyperphenylalaninemia (HPA)
  • GABBR2-related conditions:
    • Developmental and epileptic encephalopathy (DEE) (Early infantile epileptic encephalopathy)
    • Rett syndrome
  • GABRA1-related conditions:
    • Developmental and epileptic encephalopathy (DEE) (Early infantile epileptic encephalopathy)
    • Childhood absence epilepsy (CAE)
    • Juvenile myoclonic epilepsy (JME)
  • Early infantile epileptic encephalopathy (EIEE)
  • Developmental and epileptic encephalopathy (DEE) (Early infantile epileptic encephalopathy)
  • GABRB3-related conditions:
    • Childhood absence epilepsy (CAE)
    • generalized epilepsy with febrile seizures plus (GEFS+)
    • Familial febrile seizures
    • Developmental and epileptic encephalopathy (DEE)
  • GABRG2-related conditions:
    • Childhood absence epilepsy (CAE)
    • generalized epilepsy with febrile seizures plus (GEFS+)
    • Familial febrile seizures
    • Developmental and epileptic encephalopathy (DEE)
  • Developmental and epileptic encephalopathy (DEE), Spastic quadriplegic cerebral palsy (CPSQ1)
  • Dopa-responsive dystonia (DRD), GTP cyclohydrolase deficiency (GTPCH)
  • Hyperekplexia type 1 (HKPX1)
  • Hyperekplexia type 2 (HKPX2)
  • Molybdenum cofactor deficiency
  • Developmental and epileptic encephalopathy (DEE) (Early infantile epileptic encephalopathy), Intellectual disability (ID)
  • Monoamine oxidase A deficiency (Brunner syndrome)
  • Tetrahydrobiopterin-deficient hyperphenylalaninemia
  • Phosphoglycerate dehydrogenase deficiency
  • Pyridoxal 5’-phosphate-dependent epilepsy
  • Pyridoxine-dependent epilepsy
  • Phosphoserine aminotransferase (PSAT) deficiency, Neu-Laxova syndrome
  • Phosphoserine phosphatase deficiency (PSPHD)
  • Tetrahydrobiopterin-deficient hyperphenylalaninemia due to 6-pyruvate tetrahydropterin synthase (PTPS) deficiency
  • Tetrahydrobiopterin-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency (DHPR)
  • Brain dopamine-serotonin vesicular transport disease
  • SLC1A2-related early infantile epileptic encephalopathy
  • Spastic tetraplegia, thin corpus callosum and progressive microcephaly (SPATCCM)
  • Myoclonic-atonic epilepsy (MAE) (Doose syndrome)
  • Infantile parkinsonism-dystonia (PKDYS1) (Dopamine transporter deficiency syndrome)
  • Hyperekplexia 3 (HKPX3)
  • Glycine encephalopathy with normal serum glycine
  • Sepiapterin reductase deficiency
  • Tyrosine hydroxylase deficiency (Segawa syndrome)

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

Neurotransmitter disorders follow a variety of inheritance patterns including autosomal recessive, autosomal dominant, and X-linked.

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
ABAT NM_020686.5
ALDH5A1 NM_001080.3
ALDH7A1 NM_001182.4
AMT NM_000481.3
ARHGEF9 NM_015185.2; NM_001173479.1
ASNS NM_133436.3
ATAD1 NM_001321967.1
DBH NM_000787.3
DDC* NM_000790.3
DHFR NM_000791.3
DNAJC12 NM_021800.2
GABBR2 NM_005458.7
GABRA1 NM_000806.5
GABRA2 NM_001330690.1
GABRB1 NM_000812.3
GABRB3 NM_000814.5
GABRG2 NM_000816.3
GAD1 NM_000817.2
GCH1 NM_000161.2
GLDC NM_000170.2
GLRA1 NM_000171.3
GLRB NM_000824.4
GOT2 NM_002080.3
GPHN NM_020806.4
GRIN2B NM_000834.3
GRIN2D NM_000836.2
MAOA NM_000240.3
PCBD1 NM_000281.3
PHGDH NM_006623.3
PNPO NM_018129.3
PROSC NM_007198.3
PSAT1 NM_058179.3
PSPH* NM_004577.3
PTS NM_000317.2
QDPR NM_000320.2
SLC18A2 NM_003054.4
SLC1A2 NM_004171.3
SLC1A4 NM_003038.4
SLC25A22 NM_024698.5
SLC6A1 NM_003042.3
SLC6A3 NM_001044.4
SLC6A5 NM_004211.3
SLC6A9 NM_201649.3
SPR NM_003124.4
TH NM_199292.2

DDC: Deletion/duplication analysis is not offered for exons 10-11.
PSPH: Deletion/duplication and sequencing analysis is not offered for exons 4-5.