Card kit

Invitae Familial Dysautonomia Test

Test code: 03461 •

Test description

This test is for familial dysautonomia (FD), a developmental disorder of the sensory and autonomic nervous system that is caused by pathogenic variants in the ELP1 (formerly known as IKBKAP) gene.

Familial dysautonomia belongs to a larger family of hereditary sensory and autonomic neuropathies (HSANs). Given that HSANs are a heterogeneous group of disorders, identification of the underlying genetic cause may direct medical treatment, help predict outcome for the patient, and further clarify recurrence risk.

Disorders tested

  • familial dysautonomia (FD)

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 and sensitivity

Clinical description:

Familial dysautonomia (FD) is a progressive neurodegenerative disorder that affects both the sensory neurons and the neurons of the autonomic nervous system. Damage to the sensory neurons reduces sensitivity to feelings such as taste, pain, and temperature. Damage to the autonomic neurons affects the body’s ability to regulate involuntary body functions, including digestion and maintenance of heart rate, blood pressure, and body temperature.

Symptoms typically first present in infancy and include muscle weakness, gastrointestinal dysfunction, recurrent pneumonia, difficulty maintaining body temperature, absence of tears, and breath holding. During childhood, affected individuals may experience a variety of autonomic crises, including vomiting, difficulty regulating blood pressure, and fast or irregular heart rate. Other symptoms associated with familial dysautonomia can include bed-wetting, developmental delay, curvature of the spine (scoliosis), and the inability to walk normally (gait abnormalities).

Clinical description and sensitivity

Clinical description:

Familial dysautonomia (FD) is a progressive neurodegenerative disorder that affects both the sensory neurons and the neurons of the autonomic nervous system. Damage to the sensory neurons reduces sensitivity to feelings such as taste, pain, and temperature. Damage to the autonomic neurons affects the body’s ability to regulate involuntary body functions, including digestion and maintenance of heart rate, blood pressure, and body temperature.

Symptoms typically first present in infancy and include muscle weakness, gastrointestinal dysfunction, recurrent pneumonia, difficulty maintaining body temperature, absence of tears, and breath holding. During childhood, affected individuals may experience a variety of autonomic crises, including vomiting, difficulty regulating blood pressure, and fast or irregular heart rate. Other symptoms associated with familial dysautonomia can include bed-wetting, developmental delay, curvature of the spine (scoliosis), and the inability to walk normally (gait abnormalities).


Clinical sensitivity:


ELP1 (formerly known as IKBKAP) is the only known cause of familial dysautonomia. Test sensitivity is high in individuals of Ashkenazi Jewish descent. More than 99% of affected patients are homozygous for an intronic splice site mutation (c.2204+6T>C) that results in tissue-specific skipping of exon 20. Another less common pathogenic variant (p.Arg696Pro) has also been identified in the Ashkenazi Jewish population.

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

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.

Order test

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

Primary panel

1 gene selected
ELP1

Question about billing? 

Find answers