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Neuropediatrics
Congenital anomalies of the CNS
Alterations in neuronal migration:
Subcortical band heterotopia – 2 genes
DCX, PAFAH1B1
Periventricular nodular heterotopia – 37 genes
ACTB, ADGRL1, AKT3, ARF1, ARFGEF2, ARMC9, C2CD3, CDH2, COL18A1, COL4A1, CRB2, CRPPA, DCHS1, ERMARD, FAT4, FLNA, HNRNPK, INTS8, KANSL1, KAT6B, KAT8, KLHL7, LRP2, MAP1B, MCPH1, MPDZ, NEDD4L, PRORP, RAC3, RAI1, RTTN, TBC1D24, TMTC3, VPS35L, ZMIZ1, ZNF292, ZSWIM6
Periventricular nodular heterotopia associated with FLNA – 1 gene
FLNA
Other services
Variant segregation / Family studies
Turnaround time (TAT): 2 weeks
Studies of carriers of previously described variants in the family using Sanger sequencing.
For structural variants (rearrangement, copy-number variation [insertions, deletions and duplications], inversions, translocations, etc. consult in atencionalcliente@healthincode.com
Gene sequencing
Turnaround time (TAT): 35 days
Service of sequencing and interpretation of individual genes. Depending on its size and the regions of interest, we can offer an approach based on Sanger sequencing or based on NGS (enrichment by amplicons or by hybridization probes). NGS-based approach enables detection of copy number variation (CNV).
MLPA analysis
Turnaround time (TAT): 35 days
Semi-quantitative and widely contrasted technique in molecular genetics laboratories, that allows the diagnosis of pathologies due to variation in the number of copies and, in some cases, to methylation alterations. There are many commercial kits for the study of individual genes, panels of genes related to certain pathologies or extensive chromosomal regions involved in microdeletion/microduplication syndromes. HIC offers MLPA services based on the MRC-Holland kits.
Variant segregation / Family studies
Turnaround time (TAT): 2 weeks
Studies of carriers of previously described variants in the family using Sanger sequencing.
For structural variants (rearrangement, copy-number variation [insertions, deletions and duplications], inversions, translocations, etc. consult in atencionalcliente@healthincode.com
Gene sequencing
Turnaround time (TAT): 35 days
Service of sequencing and interpretation of individual genes. Depending on its size and the regions of interest, we can offer an approach based on Sanger sequencing or based on NGS (enrichment by amplicons or by hybridization probes). NGS-based approach enables detection of copy number variation (CNV).
MLPA analysis
Turnaround time (TAT): 35 days
Semi-quantitative and widely contrasted technique in molecular genetics laboratories, that allows the diagnosis of pathologies due to variation in the number of copies and, in some cases, to methylation alterations. There are many commercial kits for the study of individual genes, panels of genes related to certain pathologies or extensive chromosomal regions involved in microdeletion/microduplication syndromes. HIC offers MLPA services based on the MRC-Holland kits.
1) Download & fill out
Please cover as many fields as possible in both documents
2) Sample collection
See sample types in the guidelines
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 Monday–Friday: 8am – 5pm
5) Result: the report
Via: e-mail and/or through the customer portal
Request information on Neuropediatrics services
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