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  • Test code: 03406
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit
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Invitae Neurodegeneration with Brain Iron Accumulation Panel

Test description

Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of inherited conditions that are characterized by abnormal iron deposits in the brain that manifest as a movement disorder with varying degrees of intellectual disability.

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Primary panel (20 genes)

AP4M1 ATP13A2 C19orf12 COASY CP CRAT DCAF17 FA2H FTL FUCA1 GJA1 GTPBP2 KIF1A PANK2 PLA2G6 REPS1 SCP2 SLC25A42 SQSTM1 WDR45

  • Hereditary spastic paraplegia 50 (SPG50)
  • Kufor-Rakeb syndrome (KRS)
  • Mitochondrial membrane protein-associated neurodegeneration (MPAN)
  • COASY protein-associated neurodegeneration (CoPan)
  • Aceruloplasminemia
  • Carnitinetransferase deficiency
  • Woodhouse Sakati Syndrome (WSS)
  • Fatty acid hydroxylase-associated neurodegeneration (FAHN)
  • Neurodegeneration with neuroferritinopathy
  • Fucosidosis
  • Oculodentodigital dysplasia
  • GTPBP2-associated neuro-ectodermal syndrome
  • Hereditary sensory neuropathy type 2C (HSN2C), spastic paraplegia 30 (SPG30), complicated spastic paraplegia and intellectual disability 9 (ID9)
  • Pantothenate kinase-associated neurodegeneration (PKAN)
  • PLA2G6-associated neurodegeneration (PLAN)
  • REPS1-related conditions
  • Sterol carrier protein x deficiency
  • Mitochondrial myopathy
  • Neurodegeneration with ataxia, dystonia and gaze palsy (NADGP)
  • Beta-propeller protein-associated neurodegeneration (BPAN)

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

The majority of Neurodegeneration with Brain Iron Accumulation conditions are inherited in an autosomal recessive pattern but there are autosomal dominant and X-linked forms.

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. In addition, the analysis covers the select non-coding variants specifically defined in the table below. 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
AP4M1 NM_004722.3
ATP13A2 NM_022089.3
C19orf12 NM_001031726.3
COASY NM_025233.6
CP NM_000096.3
CRAT NM_000755.3
DCAF17 NM_025000.3
FA2H NM_024306.4
FTL NM_000146.3
FUCA1 NM_000147.4
GJA1 NM_000165.4
GTPBP2 NM_019096.4
KIF1A NM_004321.6
PANK2 NM_153638.2
PLA2G6 NM_003560.2
REPS1 NM_001286611.1
SCP2 NM_002979.4
SLC25A42 NM_178526.4
SQSTM1 NM_003900.4
WDR45 NM_007075.3