Test Directory

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

HUNTINGTON (HTT) Disease (CAG Repeat Expansion Testing in HD gene)

(CAG)n analysis;Dentatorubral-pallidoluysian atrophy (DRPLA) HTT ATN1

Leukodystrophy (295 Genes)

Leukodystrophies are a heterogeneous group of inherited disorders characterised by progressive degeneration of the cerebral white matter. These conditions result from defects in myelin development, maintenance, or repair, leading to progressive neurological deterioration including motor regression, cognitive decline, spasticity, ataxia, and seizures. Our Leukodystrophy Panel analyses 295 genes associated with a wide spectrum of leukodystrophies, hypomyelinating disorders, and inherited white matter diseases. The panel covers classic leukodystrophies, hypomyelinating leukodystrophies, vanishing white matter disease, mitochondrial leukoencephalopathies, adult-onset leukodystrophies, peroxisomal disorders, amino acid and organic acid disorders, lysosomal storage disorders, Aicardi-Goutières syndrome, hereditary spastic paraplegia with white matter involvement and metabolic and transport disorders.

Limb-girdle Muscular Dystrophies (LGMD) and Congenital Muscular Dystrophy Panel

Myotonic Dystrophy Type 1 (DM1) CTG Repeats DMPK

Triplet repeat-primed polymerase chain reaction (PCR) followed by size analysis using capillary electrophoresis to assess the CTG repeat in the DMPK 3’ untranslated region. Specific allele sizing estimates cannot be determined for CTG repeats of >150. Repeat sizing precision is approximately +/- 2 repeats for alleles with 5-24 repeats and +/- 4 repeats for alleles with 77 to 150 repeats.

Myotonic dystrophy type 2 (DM2)

Quadruplet-repeat primed (QP)-PCR for the detection of pathogenic CCTG repeat expansions in intron l of the CNBP gene, commonly denoted as (CCTG)n