Card kit

Invitae Holoprosencephaly Panel

Test code: 04424

Test description

The Invitae Holoprosencephaly Panel analyzes up to 10 genes that are associated with holoprosencephaly, a wide spectrum of brain malformations that are a result of incomplete development of the brain early in gestation. These genes were selected based on the available evidence to date to provide Invitae’s broadest test for holoprosencephaly.

Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.

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 and sensitivity

Clinical description:

Holoprosencephaly (HPE) encompasses a spectrum of cerebral and facial malformations that occur when the forebrain fails to divide along the midline into distinct hemispheres during early embryonic development. HPE severity ranges from partial division of the forebrain to complete absence of the midline and accompanying clinical presentation, which is typically correlated with the degree of cerebral malformation and ranges from closely spaced eyes or a single central maxillary incisor to a single cyclopic eye and the presence of a proboscis (nose-like appendage). The majority of individuals with HPE have intellectual disability. Incomplete penetrance and widely variable expressivity, even within the same family, are observed.

Clinical description and sensitivity

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

6 genes selected
FGFR1
GLI2
SHH
SIX3
TGIF1
ZIC2
Select add-on genes
4 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. These genes can be added at no additional charge. Visit our "(external) Preliminary-evidence genes":/preliminary-evidence/ page to learn more.

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