Sequencing Panels

Turnaround time (TAT): 6 weeks

Leukodystrophies and other hereditary leukoencephalopathies
Hypomyelinating leukodystrophies
Leukodystrophies with intracranial calcifications
Disorders with white matter rarefaction or cystic lesions on MRI
Leukodystrophies with spinal cord involvement on MRI
Leukodystrophies with abnormal peaks on magnetic resonance spectroscopy
Metachromatic leukodystrophy
Leukodystrophies due to inborn errors of metabolism
Vascular leukoencephalopathies
General panel

Otros servicios

Exome sequencing

Check all the exomes that we offer:

See all exomes
Nucleotide expansions

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.

MLPA testing

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.

Variant segregation / Family studies

TAT (turnaround time): 2 weeks

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

Gene sequencing

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).