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Targeted Gene Panels

Targeted gene panels use next-generation sequencing to analyse a selected group of genes associated with a specific clinical presentation. Focusing on relevant genes gives deep, reliable coverage and reduces the chance of incidental or uncertain findings.

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Targeted Gene Panels
Sample Peripheral blood 3 to 5 mL in EDTA, or at least 1 µg DNA
Turnaround 3 to 4 weeks from receipt of the sample
Method NGS of coding regions and exon-intron boundaries
Clinical Area Rare and Inherited Disorders
Clinical Indications Method and Coverage Sample & Preparation Documents & Timing Limitations Results & Counselling Charges & Downloads
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Clinical Indications

Diagnostic test in pregnancy. On fetal cells obtained by chorionic villus sampling or amniocentesis, this is a diagnostic test rather than a screening test.

Epilepsy panel

For early-onset, developmental and epileptic encephalopathies and treatment-resistant epilepsy. Includes genes such as SCN1A, SCN2A, SCN8A, KCNQ2, STXBP1, CDKL5, PCDH19 and SLC2A1. A genetic diagnosis can guide the choice of antiseizure treatment.

Skeletal dysplasia panel

For short stature with disproportionate limbs, abnormal bone development and prenatally detected skeletal anomalies. Includes genes such as FGFR3, COL1A1, COL1A2, COL2A1, SOX9 and SHOX.

Neurodevelopmental disorders panel

For developmental delay, intellectual disability and autism spectrum disorder where a monogenic cause is suspected. Includes genes associated with syndromic and non-syndromic neurodevelopmental conditions, such as MECP2, SYNGAP1, ARID1B, ANKRD11 and SHANK3.

Custom panels

Custom panels can be designed for specific clinical presentations or family histories.

Method & Coverage

DNA is extracted from blood, and the coding regions and exon-intron boundaries of the panel genes are sequenced by next-generation sequencing. Variants are classified according to the ACMG/AMP guidelines and reported using HGVS nomenclature. Clinically significant variants are confirmed where required, and parental testing can be performed to establish inheritance.

Sample & Preparation

  • Peripheral blood: 3 to 5 mL in an EDTA tube.
  • Extracted DNA: at least 1 µg of high-quality DNA.
  • Clinical information and family history.
  • Transport: room temperature, reaching the laboratory within 72 hours.
See also general sample requirements and reasons samples may be rejected

Documents & Timing

Documents

  • Label every sample with at least two patient identifiers, matching the requisition form.
  • Include the completed requisition form, clinical information and signed consent.

Turnaround Time

3 to 4 weeks from receipt of the sample.

Limitations

  • Only the genes included in the panel are analysed.
  • Large deletions and duplications, repeat expansions and deep intronic variants may not be detected.
  • Variants of uncertain significance may be identified.
  • A negative result does not exclude a genetic cause. Whole exome sequencing may be considered.

Results & Counselling

How results are reported

Each report is prepared by a qualified scientist, reviewed independently and signed out by an authorised specialist. Reports state the test performed, the regions analysed, the result and its interpretation, recommendations for follow-up and the limitations of the test.

Report: A signed report is sent to the referring doctor.

Genetic Counselling

A genetic counsellor can explain what this test can and cannot show before it is done, and what the result means once it is available.

Charges & Downloads

Prices depend on the test and clinical situation. Ask our team for current price information.

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