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 DiseaseFoetal anomalies Genetic Panel
This panel analyses genes associated with fetal structural abnormalities detected on prenatal ultrasound. It includes genes implicated in a wide range of developmental disorders affecting multiple organ systems and is intended to aid in the diagnosis of both isolated and syndromic fetal anomalies, supporting clinical management and genetic counselling.
Rare DiseaseImmunodeficiency, primary (313 Genes)
Our comprehensive gene panel analyses over 180 genes associated with primary immunodeficiencies (PIDs), including severe combined immunodeficiency (SCID), adenosine deaminase deficiency (ADA-SCID), purine nucleoside phosphorylase deficiency (PNP deficiency), Wiskott-Aldrich syndrome, chronic granulomatous disease, hyper-IgM syndromes, common variable immunodeficiency, and autoinflammatory disorders. SCID is a paediatric emergency characterised by profound T‑cell lymphopenia requiring urgent intervention, with ADA‑SCID caused by pathogenic variants in the ADA gene, leading to toxic metabolite accumulation and severe lymphotoxicity. PNP deficiency, resulting from PNP gene variants, presents with T‑cell immunodeficiency and neurological symptoms, while other key PIDs arise from defects in humoral immunity, cellular immunity, phagocyte function, or innate immune pathways. Early molecular diagnosis through this panel guides clinical management, informs the need for immunoglobulin replacement, antimicrobial prophylaxis, haematopoietic stem cell transplantation (HSCT), and gene therapy, and enables accurate genetic counselling for affected families.
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 analyses 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 diseasesWhole Exome Sequencing (WES) - TRIO
Whole Exome Sequencing (WES) – TRIO involves sequencing and analysis of the protein‑coding regions (~20,000 genes) in the proband, alongside both biological parents. This trio approach enhances variant interpretation by distinguishing de novo, inherited, and compound heterozygous variants, thereby improving diagnostic yield in rare disease and complex genetic presentations. Coverage: Whole exome regions (~20,000 genes), mitochondrial genome (chrM), and CNV spike‑in probes.
Rare DiseasesWhole Exome Sequencing (WES) - TRIO - Prenatal
Prenatal trio sequencing using fetal DNA (e.g., amniotic fluid or CVS) alongside parental samples. Enables early detection of clinically significant variants, guiding pregnancy management and genetic counseling. Coverage: Whole exome regions (~20,000 genes), mitochondrial genome (chrM), and CNV spike‑in probes
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-DiseasesHaemophilia A (Intron 22 & I Inversion reflex to Sequencing)
Detection of the common F8 intron 22 and intron 1 inversions, the most frequent pathogenic rearrangements causing severe Haemophilia A. Testing is performed using PCR-based inversion analysis, with MLPA (Multiplex Ligation-dependent Probe Amplification) used to detect exon-level deletions and duplications within the F8 gene. This assay assists in the molecular diagnosis of Haemophilia A and carrier testing in at-risk individuals.
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