Test Directory

Bardet-Biedl syndrome (25 Genes)

Bardet‑Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy characterised by multisystem involvement, most notably affecting vision and kidney function, with possible impact on the heart, liver, and digestive system. Common clinical features include obesity, intellectual disability, hypogonadism, and polydactyly. The estimated incidence is approximately 1 in 100,000. To date, mutations in around 25 genes have been identified, with BBS1 and BBS10 being the most frequent, accounting for ~51% and ~20% of cases, respectively.

Bartter syndrome (7 Genes)

Bartter syndrome is a rare inherited disorder of the kidney’s thick ascending limb of the loop of Henle. It is characterised by impaired salt reabsorption, leading to salt‑wasting, hypokalemia, and metabolic alkalosis. The condition results from defects in multiple transporters involved in tubular ion handling, with at least seven genes implicated across different subtypes. Genetic panel testing enables precise diagnosis, helps distinguish Bartter syndrome from overlapping tubulopathies such as Gitelman syndrome, and supports tailored clinical management.

Congenital Adrenal Hyperplasia (CAH)- MLPA

Congenital adrenal hyperplasia (CAH) is an inherited condition where the adrenal glands cannot make enough cortisol due to enzyme defects. The most common type is caused by 21-hydroxylase deficiency. Babies with CAH may show signs such as ambiguous genitalia in girls or life-threatening salt-loss crises in both sexes. These crises can lead to dehydration, low blood pressure, and dangerous electrolyte imbalances in the first weeks of life if not treated. Early testing and diagnosis are very important to prevent complications and ensure proper care.

Gitelman syndrome

Gitelman syndrome is a rare autosomal recessive salt‑wasting tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. It results from defects in the thiazide‑sensitive NaCl co‑transporter (NCC) in the distal convoluted tubule of the kidney. Mutations in four genes have been implicated, with SLC12A3 being the most common cause. Genetic testing enables accurate diagnosis and differentiation from related conditions such as Bartter syndrome. Would you like me to also prepare a short comparison summary between Bartter and Gitelman syndromes, highlighting their overlapping features and key differences?

Polydactyly, excl. Bardet-Biedl and Joubert-Meckel (134 Genes)

Aicardi-Giutieres Syndrome (7 Genes)

AGS is a rare genetic interferonopathy that presents in infancy with neurological regression, skin lesions, and systemic inflammation. Diagnosis relies on neuroimaging, interferon assays, and genetic testing, while management remains supportive with emerging immunomodulatory therapies under study.

Alzheimer disease and other dementias (60 Genes)

Amyotrophic Lateral Sclerosis (24 Genes)

Autism spectrum disorders (118 Genes)

Charcot Marie Tooth disease (CMT) and Hereditary Liability to Pressure Palsies (HNPP) - MLPA + NGS

Molecular testing for Deletion/duplication variants involving PMP22, and one optional sample provided for testing other CMT/HNPP-associated genes such as MPZ,GJB1, GARS1, and SH3CT2.

Charcot-Marie- Tooth Disease Type1A (MLPA)

This method detects copy number variations (CNVs) in the PMP22, KIF1B, TEKT3, COX10, GJB1, and MPZ genes using genomic DNA isolated from human peripheral whole blood specimens. It is intended to confirm a potential genetic cause for Charcot-Marie-Tooth disease type 1A (CMT1A) (PMP22 duplications), X-linked CMT (CMT1X) (GJB1 deletions), and hereditary neuropathy with liability to pressure palsies (HNPP) (PMP22 deletions). This test is also suitable for molecular genetic testing of at-risk family members.

Charcot-Marie-Tooth Neuropathy (84 Genes) - NGS

Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders affecting the peripheral nerves, leading to progressive muscle weakness and sensory loss, typically beginning in the feet and legs. This genetic panel analyses 83 genes associated with CMT and related inherited neuropathies, including CMT types 1, 2, 4, and X-linked forms. The panel is designed to provide a comprehensive molecular diagnosis for individuals with suspected hereditary motor and sensory neuropathy.

Chromosome instability syndromes

Ataxia telangiectasia Bloom syndrome Cornelia de Lange syndrome Fanconi anaemia ICF (immunodeficiency, centromeric instability, facial anomalies) syndrome Mosaic variegated aneuploidy Nijmegen syndrome Roberts Syndrome Seckel syndrome ATM, ATR, BRD4, BUB1B, CDCA7, CENATAC, CENPJ, CEP152, CEP295, CEP57, CEP63, DNA2, DNMT3B, ESCO2, FANC genes, HDAC8, NIN, NIPBL, NSB1 (NBN), NSMCE2, RAD21, RBBP8, RECQL3 (BLM), SMC1A, SMC3, TRAIP, TRIP13, ZBTB24

Dentatorubro-pallidoluysian Atrophy (DRPLA) (CAG Repeat Expansion in ATN1 Gene)

Distal myopathies (211 Genes)

This panel analyzes 211 genes associated with hereditary distal myopathies, a group of inherited muscle disorders characterized by progressive weakness and wasting of the distal muscles (hands, feet, forearms, and lower legs). Testing is indicated for individuals with clinical features suggestive of a distal myopathy, distal muscle weakness (foot drop, grip weakness, or difficulty with fine motor tasks); normal or mildly elevated creatine kinase (CK); characteristic findings on muscle biopsy (e.g., rimmed vacuoles, protein aggregates); family history consistent with autosomal dominant or recessive inheritance. including- distal muscle weakness (foot drop, grip weakness, or difficulty with fine motor tasks); normal or mildly elevated creatine kinase (CK); characteristic findings on muscle biopsy (e.g., rimmed vacuoles, protein aggregates); family history consistent with autosomal dominant or recessive inheritance.

DMD - Gene Sequencing

If MLPA (Multiplex Ligation-dependent Probe Amplification) testing is negative or inconclusive, next-generation sequencing (NGS) is performed to detect small sequence variants such as point mutations, small insertions, or deletions that MLPA cannot identify. This reflex strategy ensures comprehensive analysis by combining detection of both copy number variations and sequence-level changes.

Dystonia, chorea or related movement disorder (Early and adult onset)- Comprehensive

Dystonia, chorea, and related movement disorders are neurological conditions characterised by involuntary, abnormal movements. They can present in both early (childhood) and adult-onset forms, with distinct causes, symptoms, and progression patterns.

Dystonias (early/child/adult onset), chorea or related movement disorder (95 Genes)

This comprehensive genetic test analyzes 95 genes known to be associated with dystonias (early, childhood, and adult onset), chorea, and related movement disorders using next-generation sequencing (NGS) technology. Movement disorders are a diverse group of neurological conditions that can present with abnormal muscle contractions, involuntary movements, or impaired motor control. Identifying an underlying genetic cause can be critical for accurate diagnosis, prognosis, and management.

Friedreich Ataxia (FRDA) - FXN gene GAA Repeat

Friedreich Ataxia, a recessive condition, is typically caused by inheritingan expanded GAA repeat sequence in intron 1 of both copies of FXN gene detected via repeat-primed PCR.

HLA Genotype Sequenced