Test Directory
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Familial pulmonary fibrosis (28 Genes)
This panel is designed to detect pathogenic and likely pathogenic variants in 28 genes known to be associated with familial pulmonary fibrosis and related interstitial lung diseases. Pulmonary fibrosis is a progressive disorder characterised by scarring of lung tissue, impaired gas exchange, and respiratory failure. While idiopathic pulmonary fibrosis is the most common form, a significant proportion of cases are linked to heritable genetic defects affecting surfactant metabolism, telomere biology, lysosomal function, and cellular homeostasis. By targeting these 28 genes, the panel provides a comprehensive molecular approach for diagnosing familial pulmonary fibrosis, clarifying overlapping syndromic presentations, and guiding genetic counselling, prognosis, and management strategies.
Rare DiseasesIncontinentia Pigmenti
Incontinentia Pigmenti (IP) is an X-linked dominant disorder caused by pathogenic variants in the IKBKG gene (also known as NEMO). Diagnostic testing is recommended for individuals with characteristic skin findings (vesicular, verrucous, or hyperpigmented stages), dental anomalies, alopecia, or neurological involvement. Testing options include deletion/duplication analysis by MLPA and and reflexed to sequencing of the IKBKG gene.
Rare diseasesPrenatal ExomeSeq -(WES) + mtDNA Seq
Exome sequencing analyzes approximately 20,000 protein-coding genes, including the complete mitochondrial genome, to detect pathogenic single nucleotide variants, small insertions and deletions, and mitochondrial mutations associated with a broad spectrum of genetic disorders. The assay also includes exon-level copy number variant (CNV) detection and evaluation of loss of heterozygosity (LOH), which may indicate uniparental disomy, consanguinity, or chromosomal anomalies. Collectively, these analyses provide a comprehensive genomic assessment to support diagnosis, inform clinical management, and guide familial risk evaluation. The combination of Twist's proprietary double-stranded DNA (dsDNA) probes with optimized library preparation and capture reagents delivers industry-leading uniformity of coverage and the lowest duplicate rates, enabling the generation of high-quality sequencing data. The Twist Comprehensive Exome panel targets 36.8 Mb of human protein-coding regions, covering over 99% of the RefSeq, CCDS, and GENCODE databases. ACMG73 100%; CCDS 100%; CliVar 100%; GenCode v35 99%; RefSeq 100%.
Rare diseases