Neurology
Sequencing Panels
Turnaround time (TAT): 6 weeks
Structural myopathies
Metabolic myopathies
Myotonia
Congenital myasthenic syndromes
Arthrogryposis
General panel
Charcot-Marie-Tooth
Motor
Sensory-autonomic
Metabolic
Optic
General panel
Spinocerebellar
Spastic
Episodic
Atrophy / Pontocerebellar hypoplasia
General panel
Dystonia
Parkinson’s disease and related disorders
Chorea and Huntington-like disorders
Basal ganglia calcification
NBIAS
Paroxysmal movement disorders
Metabolic movement disorders
General panel
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
Check all the exomes that we offer:
See all exomesTAT (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).
Marta Córdoba, MD
Head of the area of Neurology
Steps to follow
How to order
1. Download & fill out
Please cover as many fields as possible in both documents
2. Sample collection
Three sample types: saliva, peripheral blood or genomic DNA
3. Pack the sample
Please pack the sample in a way to prevent leakage
4. Send the sample & the request
Please schedule the delivery for Mon–Thur: 8am – 5pm
5. Result: the report
Via: Client Site HIC / Client Site Imegen / Certified email
