General panel
Structural myopathies
Metabolic myopathies
Myotonia
Congenital myasthenic syndromes
Arthrogryposis
General panel
Epileptic encephalopathy
Myoclonic epilepsy and other forms of familial epilepsy
Syndromes related to epilepsy

Other services

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).

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