Test Directory

Cholestasis and (congenital) bile acid synthesis defect (14 Genes)

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.

Foetal 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.

Immunodeficiency, 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.

Deafness, non-syndromic sensorineural autosomal dominant/recessive/X-linked/mitochondrial, extended (110 Genes)

This panel analyses over 110 genes associated with non-syndromic sensorineural hearing loss across autosomal dominant, autosomal recessive, X-linked, and mitochondrial inheritance patterns, including key genes such as GJB2, GJB6, SLC26A4, MYO15A, OTOF, TMC1, CDH23, and mtDNA variants. Genomic DNA is extracted from peripheral blood, enriched by capture-based target enrichment, and sequenced on an NGS platform with deletion/duplication analysis included. The panel is intended to establish a molecular diagnosis, determine the inheritance pattern for family counselling, guide prognosis and management, and enable accurate recurrence risk assessment and reproductive planning. Limitations include the inability to detect deep intronic variants, structural rearrangements, and low-level mosaicism.

Deafness, non-syndromic sensorineural autosomal dominant/recessive/X-linked/mitocondrial, classic

This panel analyses over 90 genes associated with non-syndromic sensorineural hearing loss across autosomal dominant (DFNA), autosomal recessive (DFNB), X-linked (DFNX), and mitochondrial inheritance patterns. Key genes include GJB2, GJB6, SLC26A4, MYO15A, OTOF, TMC1, TMPRSS3, CDH23, USH1C, PCDH15, KCNQ4, COCH, TECTA, MYO7A, POU3F4, SMPX, and mtDNA variants. Genomic DNA is extracted from peripheral blood, enriched by capture-based target enrichment, and sequenced on an NGS platform with deletion/duplication analysis included. The panel is intended to establish a molecular diagnosis, determine the inheritance pattern for family counselling, and guide prognosis and management. Limitations include the inability to detect deep intronic variants, structural rearrangements, and low-level mosaicism.

Familial 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.

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.

Focal segmental glomerulosclerosis/nephrotic syndrome (25 Genes)

This gene panel covers a genetically heterogeneous group of conditions that primarily affect the podocyte, the specialised cell that forms the kidney's filtration barrier. The panel is designed to identify monogenic causes of Focal Segmental Glomerulosclerosis (FSGS) and Nephrotic Syndrome (NS).

Hearing Loss Panel (142 genes)

This comprehensive panel analyses 142 genes associated with syndromic and non-syndromic hearing loss across all inheritance patterns, including autosomal dominant, autosomal recessive, X-linked, and mitochondrial. It covers key non-syndromic genes (GJB2, GJB6, SLC26A4, MYO15A, OTOF, TMC1, CDH23, STRC, USH2A) as well as genes for syndromic forms such as Usher syndrome, Pendred syndrome, Waardenburg syndrome, Branchio-oto-renal syndrome, and Alport syndrome (COL4A3/A4/A5). Mitochondrial variants (MT-RNR1, MT-TL1, MT-TS1, MT-CO1) are also assessed. Genomic DNA is extracted from peripheral blood, enriched by capture-based target enrichment, and sequenced on an NGS platform with deletion/duplication analysis included. The panel is intended to establish a molecular diagnosis, determine the inheritance pattern for family counselling, and guide prognosis and management. Limitations include the inability to detect deep intronic variants, structural rearrangements, and low-level mosaicism.

Hereditary Multiple Exostoses Panel [Ostoechondromatosis] (3 Genes)

Hereditary Multiple Osteochondromas (HMO), also known as Multiple Hereditary Exostoses (MHE), is an autosomal dominant skeletal disorder characterised by the development of multiple benign bone tumours (osteochondromas) near the growth plates of long bones. These lesions can cause bony deformities, limb malalignment, short stature, joint pain, and gait abnormalities of varying severity. The lifetime risk of malignant transformation to chondrosarcoma is approximately 2–5%. Our Exostoses, Multiple (Osteochondromatosis) panel analyses 3 genes associated with this condition: EXT1 Hereditary Multiple Osteochondromas (HMO) ~60–70% of cases; EXT2 Hereditary Multiple Osteochondromas (HMO) ~20–30% of cases; PTPN11 Noonan syndrome / LEOPARD syndrome Included for differential diagnosis of skeletal features overlapping with HMO

Inborn Error of Metabolism

Our comprehensive Inborn Errors of Metabolism (IEM) Gene Panel analyzes hundreds of genes associated with inherited metabolic disorders affecting amino acid, organic acid, fatty acid, carbohydrate, lipid, lysosomal, peroxisomal, mitochondrial, and other metabolic pathways. These rare genetic conditions can present with developmental delay, seizures, intellectual disability, failure to thrive, liver dysfunction, cardiomyopathy, metabolic crises, and other multisystem manifestations. Using advanced next-generation sequencing (NGS) technology, this panel enables accurate molecular diagnosis, supports clinical management and treatment decisions, facilitates genetic counseling, and identifies at-risk family members. The panel is designed for patients with suspected metabolic disorders, abnormal newborn screening results, unexplained neurological symptoms, or biochemical findings suggestive of an inherited metabolic disease.

Incontinentia 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.

Prenatal 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%.

Skeletal dysplasias, classic (59 Genes)

Skeletal dysplasias are a diverse group of over 450 inherited disorders affecting bone and cartilage development, leading to abnormalities in bone shape, size, and structure. Our Skeletal Dysplasia panel analyses 59 genes associated with a broad spectrum of these conditions, ranging from mild short stature to severe, prenatally lethal skeletal abnormalities

Skeletal dysplasias, extended (453 Genes)

The Skeletal Dysplasia (Extended) panel analyses a comprehensive set of genes responsible for skeletal development, growth, and homeostasis. It is intended for patients with clinical and/or radiological features suggestive of a skeletal dysplasia, such as disproportionate short stature, limb deformities, joint abnormalities, and skeletal malformations.

Whole 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.

Whole 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

Comprehensive 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

Familial 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.