Test Directory
Browse our comprehensive catalog of genetic tests
Anophthalmia, microphthalmia isolated/syndromic (90 Genes)
This panel is designed to identify genetic causes of anophthalmia (complete absence of one or both eyes) and microphthalmia (abnormally small eyes), including both isolated ocular forms and syndromic forms associated with extra-ocular abnormalities.
Rare DiseaseFamilial hypercholesterolaemia & other lipoprotein metabolism defects
Familial Hypercholesterolaemia (FH) and related lipoproteinaemias are inherited disorders that affect cholesterol and lipid metabolism. These conditions often lead to elevated levels of low-density lipoprotein cholesterol (LDL-C), increasing the risk of premature cardiovascular disease. Genetic testing helps identify individuals at risk, enabling early intervention and personalized treatment strategies.
Rare DiseasesFamilial 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 diseasesComprehensive Detoxification & Immunogenetic Risk Panel
This panel integrates key Phase II detoxification genes with critical immune regulation markers, offering a holistic view of how genetic variation influences toxin clearance, drug metabolism, cancer susceptibility, and autoimmune risk. It is designed for clinicians, researchers, and wellness programs seeking actionable insights into both metabolic resilience and immune predisposition
Rare-DiseasesFamilial Variant Testing
Targeted genetic testing focuses on analyzing a specific genetic variant already identified in a patient or family member, and is most often used for cascade testing of at‑risk relatives, carrier testing to assess reproductive risk, confirmatory testing to validate a known finding, and mosaic variant analysis when partial variant presence is suspected.
Rare-DiseasesFamilial Variant Testing
Targeted genetic testing focuses on analyzing a specific genetic variant already identified in a patient or family member, and is most often used for cascade testing of at‑risk relatives, carrier testing to assess reproductive risk, confirmatory testing to validate a known finding, and mosaic variant analysis when partial variant presence is suspected.
Rare-DiseasesDifferences in Sex Development (DSD)
Androgen insensitivity syndrome, Congenital adrenal hyperplasia, Congenital adrenal hypoplasia, 5-alpha reductase deficiency, cytogenomic abnormalities and other disorders associated with a DSD NGS panel
Reproductive Genetics