Neurology

General panel

Genetic muscle disorders (GMD) [329 genes]

Ref.: S-202008374

Structural myopathies

Genetic muscle disorders (GMD) with structural abnormalities [133 genes]

Ref.: S-202008646

Rhabdomyolysis and hyperCKemia [47 genes]

Ref.: S-202008642

Limb-girdle muscular dystrophies [43 genes]

Ref.: S-202008552

Distal myopathies [37 genes]

Ref.: S-202008620

Emery-Dreifuss muscular dystrophy [7 genes]

Ref.: S-201602251

Dystrophinopathies. Sequencing of the DMD gene by NGS [1 gene]

Ref.: S-201602252

Duchenne/Becker muscular dystrophy. Deletions and duplications of the DMD gene by MLPA [1 gene]

Ref.: S-201805109

Oculopharyngeal muscular dystrophy. PABPN1 gene expansions [1 gene]

Ref.: S-201601406

Metabolic myopathies

Metabolic myopathies [109 genes]

Ref.: S-202008656

Pompe disease [1 gene]

Ref.: S-201907209

Myotonia

Non-dystrophic myotonias [10 genes]

Ref.: S-202008624

Myotonic dystrophy type 1. CTG expansions in the DMPK gene [1 gene]

Ref.: S-201804669

Myotonic dystrophy type 2. CCTG expansions in the CNBP gene [1 gene]

Ref.: S-202008721

Congenital myasthenic syndromes

Congenital myasthenia [29 genes]

Ref.: S-202008629

Arthrogryposis

Arthrogryposis [85 genes]

Ref.: S-202008626

General panel

Hereditary neuropathies [205 genes]

Ref.: S-202008657

Charcot-Marie-Tooth

Charcot-Marie-Tooth disease [87 genes]

Ref.: S-202008627

Charcot-Marie-Tooth disease 1A/HNPP. Deletions and duplications of the PMP22 gene by MLPA [1 gene]

Ref.: S-201703888

Motor

Spinal muscular atrophy. SMN1 and SMN2 gene copy number analysis by MLPA (P021) [diagnosis] [2 genes]

Ref.: S-202616379

Multifocal motor neuropathy / SMN1-negative spinal muscular atrophy [47 genes]

Ref.: S-202008639

Spinal muscular atrophy. SMN1 and SMN2 gene copy number analysis by MLPA (P460) [carrier testing and familial segregation study, including silent carrier risk assessment (2/0 genotype)] [2 genes]

Ref.: S-202414739

Sensory-autonomic

Hereditary sensory and autonomic neuropathy [29 genes]

Ref.: S-202008641

Optic

Optic neuropathy [30 genes]

Ref.: S-202008640

Ataxia [325 genes]

Ref.: S-202008375

Spinocerebellar ataxia [96 genes]

Ref.: S-202008530

Episodic ataxia [9 genes]

Ref.: S-202008528

CANVAS syndrome [1 gene]

Ref.: S-202515581

Ataxia by expansions

Friedreich’s ataxia. GAA expansions in the FXN gene [1 gene]

Ref.: S-201601805

Dentatorubral-pallidoluysian atrophy (DRPLA). CAG expansions in the ATN1 gene [1 gene]

Ref.: S-202008724

Fragile X syndrome (FXS/FXTAS/FXPOI). CGG expansions in the FMR1 gene [1 gene]

Ref.: S-202008723

General panel

Movement disorders [163 genes]

Ref.: S-202008659

Dystonia

Dystonia [46 genes]

Ref.: S-202008645

Myoclonic dystonia [2 genes]

Ref.: S-202008547

Parkinson’s disease and related disorders

Parkinson’s disease and related disorders [25 genes]

Ref.: S-202008559

Fragile X syndrome (FXS/FXTAS/FXPOI). CGG expansions in the FMR1 gene [1 gene]

Ref.: S-202008723

Chorea and Huntington-like disorders

Chorea and Huntington-like disorders [20 genes]

Ref.: S-201805729

Huntington’s disease. CAG expansions in the HTT gene [1 gene]

Ref.: S-202008726

Huntington disease-like type 2. CTG/CAG expansions in the JPH3 gene [1 gene]

Ref.: S-202008727

Basal ganglia calcification

Basal ganglia calcification [17 genes]

Ref.: S-202008643

Aicardi-Goutières syndrome [8 genes]

Ref.: S-201805369

Sequencing of RNU7-1: Aicardi-Goutières syndrome [1 gene]

Ref.: S-202515699

NBIAS

Neurodegeneration with brain iron accumulation (NBIAS) [15 genes]

Ref.: S-202008625

Paroxysmal movement disorders

Paroxysmal movement disorders and differential diagnosis [27 genes]

Ref.: S-201804729

Metabolic movement disorders

Neuronal ceroid lipofuscinosis [12 genes]

Ref.: S-202008276

General panel

Leukodystrophies and other hereditary leukoencephalopathies [233 genes]

Ref.: S-202008655

Hypomyelinating leukodystrophies

POLR3-related leukodystrophy [4 genes]

Ref.: S-202008607

Trichothiodystrophy [11 genes]

Ref.: S-202008679

Pelizaeus-Merzbacher disease (PMD). PLP1 gene NGS [1 gene]

Ref.: S-202008560

Leukoencephalopathy, brain calcifications and cysts

Leukoencephalopathy with brain calcifications and cysts (SNORD118) [1 gene]

Ref.: S-202313475

Disorders with white matter rarefaction or cystic lesions on MRI

Childhood ataxia with central nervous system hypomyelination and vanishing white matter (CACH/VWM) [5 genes]

Ref.: S-202008667

General panel

Epilepsy global panel [989 genes]

Ref.: S-202414900

Myoclonic epilepsy and other forms of familial epilepsy

Progressive myoclonic epilepsy [55 genes]

Ref.: S-202008564

Focal epilepsy and other forms of familial epilepsy [49 genes]

Ref.: S-202008562

Unverricht-Lundborg myoclonic epilepsy. CSTB gene expansions [1 gene]

Ref.: S-202008728

Syndromes related to epilepsy

Rett syndrome, Rett-like and differential diagnosis [77 genes]

Ref.: S-202008676

Rett syndrome. Sequencing of the MECP2 by NGS [1 gene]

Ref.: S-202415005

Febrile seizures and febrile seizures plus [17 genes]

Ref.: S-202008671

Angelman-like syndrome [29 genes]

Ref.: S-202211688

Tuberous sclerosis [2 genes]

Ref.: S-201907249

Dravet syndrome. SCN1A gene sequencing by NGS [1 gene]

Ref.: S-202515799

TAT (turnaround time): 8 weeks

DNA fragment analysis service for pathologies caused by nucleotide expansions. Specific approaches for each disease allow distinguishing between pathologic and non-pathologic alleles.

TAT (turnaround time): 35 days

Semiquantitative technique that is widely applied in molecular genetic laboratories and that allows diagnosing pathologies caused by copy number variations and, in some cases, by alterations in DNA methylation. A wide variety of commercial kits are available to test individual genes, gene panels related to specific pathologies, or large chromosomal regions involved in microdeletion/microduplication syndromes. HIC offers MLPA services based on MRC-Holland kits.

TAT (turnaround time): 2 weeks

Sanger sequencing studies on carriers of variants that have been previously described in the family.

TAT (turnaround time): 35 days

Individual gene sequencing and interpretation service. Depending on its size and on the regions of interest, we can offer an approach based on Sanger sequencing or on NGS (enrichment using amplicons or hybridization probes). The NGS-based approach allows detecting copy number variations (CNVs).