Test Directory
Browse our comprehensive catalog of genetic tests
Chromosomal Microarray (CMA) - 750K SNP array - Peripheral Blood
The Affymetrix CytoScan 750K Array assay, performed with genomic DNA extraction, is used to detect small copy number gains and losses across the entire genome. Genomic imbalances are reported when deletions exceed 200 kb or duplications exceed 500 kb, unless the affected region is clearly recognized as a benign copy number polymorphism in multiple independent studies. Regions of homozygosity (ROH) are reported when they are larger than 10 Mb. Deletions smaller than 200 kb and duplications smaller than 500 kb may not be reported unless they involve genomic regions with established clinical significance.
CytogeneticsChromosomal Microarray (CMA) - 750K SNP array - Prenatal
The Affymetrix CytoScan 750K Array assay, performed with genomic DNA extraction, is used to detect small copy number gains and losses across the entire genome. Genomic imbalances are reported when deletions exceed 200 kb or duplications exceed 500 kb, unless the affected region is clearly recognized as a benign copy number polymorphism in multiple independent studies. Regions of homozygosity (ROH) are reported when they are larger than 10 Mb. Deletions smaller than 200 kb and duplications smaller than 500 kb may not be reported unless they involve genomic regions with established clinical significance.
CytogeneticsMulti-Locus Imprinting Disorders
This multi-locus imprinting assay detects copy number variations and methylation abnormalities across 14 DMRs on 8 chromosomes, and determines the parental origin of triploid pregnancies. It is indicated for suspected imprinting disorders including Beckwith-Wiedemann, Silver-Russell, Prader-Willi, Angelman, Temple, Kagami-Ogata, transient neonatal diabetes mellitus, and cases of suspected multi-locus imprinting disturbance (MLID) or triploidy.
CytogeneticsCongenital adrenal hyperplasia (Panel)
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in enzymes involved in cortisol biosynthesis. The most common form is due to 21‑hydroxylase deficiency (CYP21A2), but other genes including CYP11A1, CYP17A1, CYP11B1, HSD3B2, STAR, and POR can also be implicated, each leading to distinct subtypes of CAH. Clinical features vary depending on the enzyme affected, but may include ambiguous genitalia in females, virilization, and potentially life‑threatening salt‑wasting crises in both sexes. Severe cases can present in the first weeks of life with hyponatremia, hyperkalemia, and hypotension if not promptly recognized. Early diagnosis is critical to prevent complications, guide hormone replacement therapy, and support appropriate gender assignment and long‑term management.
EndocrinologyLymphedema, hereditary and other conditions with lymphedema
This panel evaluates genes associated with isolated and syndromic lymphatic malformations (including but not limited to Meige Disease, Lymphedema Tarda and Milroy's Disease and Noonan Syndrome). Genetic diagnosis supports clinical confirmation, subtype classification, and personalized management. Inheritance is typically autosomal dominant with variable expressivity. Somatic mosaicism may underlie some pathogenic variants, necessitating tissue-specific analysis. Family risk assessment is enabled upon identification of causative mutations.
Gene-PanelPorphyrias
Panel testing- Variants in the most frequently analysed porphyria genes
Gene-PanelRASopathy
The RASopathy Gene Panel is a targeted next-generation sequencing (NGS) panel that analyses 25 genes associated with the RAS-MAPK signalling pathway. This pathway plays a critical role in cell growth, differentiation, and development. Germline pathogenic variants in these genes result in a group of clinically overlapping developmental syndromes known as RASopathies. These conditions share common features including craniofacial dysmorphism, congenital heart defects, hypertrophic cardiomyopathy, short stature, intellectual disability, cutaneous abnormalities (e.g., café-au-lait spots, lentigines), and an increased risk of certain malignancies.
Gene-PanelReproductive Carrier Screening; 1. Alpha Thalassaemia; 2. Beta Thalassaemia; 3. Spinal muscular atrophy (SMA); 4. Fragile X syndrome (FXS)
Reproductive Carrier Screening helps identify whether someone carries certain inherited conditions that could affect future children. This panel looks at four important disorders: Alpha thalassemia, Beta thalassemia, Spinal muscular atrophy (SMA), and Fragile X syndrome (FXS). Identifying carrier status provides critical information for individuals and couples planning a family, helping to reduce the risk of passing on severe genetic conditions. It is especially useful for gamete donors, as it ensures donated eggs or sperm are screened for major genetic risks. By providing this information, the test supports safer family planning and healthier outcomes for future generations.
Gene-PanelWhole Exome Sequencing (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%.
Gene-Panel