Pendred syndrome – SLC26A4 gene analysis

Diagnostic Use

Pendred Syndrome is an autosomal-recessive disorder characterised by hearing impairment and a variety of thyroid pathology. >99% of cases are caused by pathogenic variants in the SLC26A4 gene, which encodes a protein known as pendrin. This protein is predominantly expressed in thyroid, inner ear, and kidney.

This genetic test analyses the SLC26A4 gene to identify variantsa associated with Pendred syndrome. This test is used for diagnostic confirmation, carrier testing, and prenatal testing. The test detects sequence variants in the coding region of SLC26A4, as well as single/multi exon and whole gene deletions and duplications (CNVs).

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Constituent Tests

• Genomic DNA Extraction

Synonyms

SLC26A4 Gene Analysis
Pendred syndrome

Turnaround Time

4 weeks

Test Code

4193

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4.0

No of Samples Required

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

1.0

Minimum Sample Volume (ml)

0.5

Additional Specimen Information

This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

Please don’t centrifuge or freeze the EDTA blood tube.

Test Method

Patient DNA is analysed using a Twist Bioscience next generation sequencing (NGS) custom panel on an Illumina MiSeq instrument. All coding regions and intron-exon boundaries of the SLC26A4 gene (NM_000441.2) are analysed to a minimum read depth of 30x. Copy number variants (CNVs) in SLC26A4 are assessed by analysis of coverage depth data from the Twist NGS panel using a validated in-house algorithm.

Non-Funded Test Cost

$600 (Exclusive of GST)

Uncertainty of Measurement:
Automated bidirectional DNA sequencing has an analytical sensitivity and specificity of over 99%. Note that the lower limit of variant detection of sequencing analysis is ~10%, this is important to consider in the case of mosaicism, mitochondrial, and somatic variation that is not expected to be present at 50% or 100%. This analysis will not detect variants located within intronic regions, except at the intron-exon boundaries.

Genomic DNA must be extracted from samples prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms / microlitre.

Contact Information

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