Through ClientSite you can filter variants and download your reports
Inborn errors of metabolism
Inborn errors of metabolism [305 genes]
Ref.: S-202009713|Turnaround time (TAT) 25 days
- Inherited metabolic disorders of complex molecules [202 genes]
Ref.: S-202009814|Turnaround time (TAT) 25 days
- Peroxisomal disorders [36 genes]
Ref.: S-202009820|Turnaround time (TAT) 25 days
- Congenital disorders of glycosylation [102 genes]
Ref.: S-202009800|Turnaround time (TAT) 25 days
- Metal storage disorders [10 genes]
Ref.: S-202009821|Turnaround time (TAT) 25 days
- Diseases caused by the accumulation of toxic substances [69 genes]
Ref.: S-202110554|Turnaround time (TAT) 25 days
- Wilson disease. Sequencing of the ATP7B gene [1 gene]
Ref.: S-202008754|Turnaround time (TAT) 25 days
- Fabry disease. Sequencing of the GLA gene [1 gene]
Ref.: S-201601169|Turnaround time (TAT) 25 days
Other services
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)
NextGenDx® massive sequencing (NGS)
Turnaround time (TAT): 35 days
Next Generation Sequencing (NGS), or massive sequencing, is a term used to describe a set of new technologies capable of performing massive DNA sequencing. This means that millions of small pieces of DNA can be sequenced at the same time, creating a huge amount of data. This data can reach up to gigabytes of information, which is the equivalent of 1 billion base pairs of DNA. By comparison, previous methods could sequence only one piece of DNA at a time, generating between 500 and 1,000 base pairs of DNA in a single reaction.
NextGenDx® It is indicated in cases where it is intended to analyze a certain group of specific genes with maximum diagnostic precision. Addressed to:
- Monogenic diseases or diseases associated with a few large genes.
- Multigenic or genetically heterogeneous diseases whose differential diagnosis is complex.
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.
Array CGH
Turnaround time (TAT): 35 days
It is also known as a molecular karyotype and its main advantage over the karyotype is its great sensitivity, allowing the detection of structural variations that go unnoticed in a karyotype. CGH-array technology makes it possible to analyze losses or gains of genetic material and unbalanced rearrangements in the complete genome of an individual.
The CGX Postnatal 180K is specially designed for genetic diagnosis. It has a medium resolution of 100 kb throughout the entire genome and a high resolution of 20 kb in the regions of interest of the genome (regions that present a direct association between copy number variation and some pathology or syndrome described).
The 37K prenatal array is specially designed for prenatal diagnosis to detect the presence of genetic and chromosomal alterations in a single test. Its resolution is 10 times greater than that of a conventional karyotype and 50 times greater in the critical regions of the main syndromes. Without substantially decreasing the resolution in the regions of interest, the GCX 37K presents a low coverage in the rest of the genome in order to minimize diagnostic uncertainty as much as possible.
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
In vitro analysis for splicing variants
The normal process of gene transcription allows for the correct removal of introns and the joining of exons (splicing process) in messenger RNA to generate a functional protein. Advances in genomics have made it possible to expand sequencing to non-coding regions far from the canonical regions that flank the exons. Variants that affect pre-mRNA splicing (spliceogenic variants) are considered to be the cause of the disease with an estimated frequency of 15-50%, depending on the pathology under study.
These variants can induce exon exclusion, activation of cryptic splicing sites, or total/partial retention of the intron, generating an anomalous reading pattern. Frequently, these reading pattern abnormalities result in a premature stop codon in the mRNA, which could be degraded at the cellular level or give rise to a truncated or aberrantly sequenced protein, resulting in a consequent loss of function.
Bioinformatics in silico prediction tools do not always define the degree of involvement of variants in splicing defects. Functional ex vivo studies with RNA make it possible to elucidate the impact of genetic variants on splicing and the underlying molecular mechanism, which results in greater knowledge that can be transferred to clinical diagnosis.
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)
Turnaround time (TAT): 35 days
Next Generation Sequencing (NGS), or massive sequencing, is a term used to describe a set of new technologies capable of performing massive DNA sequencing. This means that millions of small pieces of DNA can be sequenced at the same time, creating a huge amount of data. This data can reach up to gigabytes of information, which is the equivalent of 1 billion base pairs of DNA. By comparison, previous methods could sequence only one piece of DNA at a time, generating between 500 and 1,000 base pairs of DNA in a single reaction.
NextGenDx® It is indicated in cases where it is intended to analyze a certain group of specific genes with maximum diagnostic precision. Addressed to:
- Monogenic diseases or diseases associated with a few large genes.
- Multigenic or genetically heterogeneous diseases whose differential diagnosis is complex.
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.
Turnaround time (TAT): 35 days
It is also known as a molecular karyotype and its main advantage over the karyotype is its great sensitivity, allowing the detection of structural variations that go unnoticed in a karyotype. CGH-array technology makes it possible to analyze losses or gains of genetic material and unbalanced rearrangements in the complete genome of an individual.
The CGX Postnatal 180K is specially designed for genetic diagnosis. It has a medium resolution of 100 kb throughout the entire genome and a high resolution of 20 kb in the regions of interest of the genome (regions that present a direct association between copy number variation and some pathology or syndrome described).
The 37K prenatal array is specially designed for prenatal diagnosis to detect the presence of genetic and chromosomal alterations in a single test. Its resolution is 10 times greater than that of a conventional karyotype and 50 times greater in the critical regions of the main syndromes. Without substantially decreasing the resolution in the regions of interest, the GCX 37K presents a low coverage in the rest of the genome in order to minimize diagnostic uncertainty as much as possible.
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
The normal process of gene transcription allows for the correct removal of introns and the joining of exons (splicing process) in messenger RNA to generate a functional protein. Advances in genomics have made it possible to expand sequencing to non-coding regions far from the canonical regions that flank the exons. Variants that affect pre-mRNA splicing (spliceogenic variants) are considered to be the cause of the disease with an estimated frequency of 15-50%, depending on the pathology under study.
These variants can induce exon exclusion, activation of cryptic splicing sites, or total/partial retention of the intron, generating an anomalous reading pattern. Frequently, these reading pattern abnormalities result in a premature stop codon in the mRNA, which could be degraded at the cellular level or give rise to a truncated or aberrantly sequenced protein, resulting in a consequent loss of function.
Bioinformatics in silico prediction tools do not always define the degree of involvement of variants in splicing defects. Functional ex vivo studies with RNA make it possible to elucidate the impact of genetic variants on splicing and the underlying molecular mechanism, which results in greater knowledge that can be transferred to clinical diagnosis.
Steps to follow
How to order
1. Download & fill out
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2. Sample collection
See sample types in the requirements manual
3. Pack the sample
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4. Send the sample & the request
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5. Result: the report
Via: e-mail and/or through the customer portal
Ask us for more information on our Metabolopathies services
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Inborn errors of metabolism – 305 genes
ABAT, ABCD1, ABCD3, ABHD5, ACAD8, ACADL, ACADM, ACADS, ACADVL, ACAT1, ACOX1, AGK, AGL, AGPS, AGXT, ALDH3A2, ALDH4A1, ALDH5A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, AMACR, AMT, APRT, ARG1, ARSE, ASPA, ASS1, ATP13A2, ATP6AP1, ATP6V0A2, ATP7A, ATP7B, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALT1, B4GALT7, BCKDHA, BCKDHB, BMP2, BTD, C1GALT1C1, CA5A, CACNA1S, CAD, CAT, CBS, CCDC115, CHST14, CHST3, CHST6, CHSY1, CLCN1, CLDN16, CLN3, CLN5, CLN6, CLN8, COG1, COG2, COG4, COG5, COG6, COG7, COG8, CP, CPOX, CPT1A, CPT2, CTSD, CTSF, CYP27A1, D2HGDH, DBT, DDOST, DHDDS, DLAT, DNAJC12, DNAJC5, DNM1L, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYM, EBP, ENO3, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EXT1, EXT2, FAH, FAR1, FBP1, FECH, FH, FKRP, FKTN, FMO3, FTH1, FUT8, FXYD2, G6PC, GAA, GALE, GALK1, GALNT12, GALNT3, GALT, GAMT, GBE1, GCDH, GCSH, GFPT1, GLDC, GLS, GLUL, GMPPA, GMPPB, GNE, GNMT, GNPAT, GORAB, GRHPR, GRN, GSS, GYG1, GYS1, GYS2, HADHA, HADHB, HAL, HAMP, HFE, HGD, HJV, HLCS, HMBS, HOGA1, HPRT1, HPX, HSD17B4, ISPD, IVD, KCNA1, KCNE3, KCTD7, LAMP2, LARGE1, LDHA, LFNG, LIAS, LMBRD1, LPIN1, MAGT1, MAN1B1, MCCC1, MCCC2, MCEE, MFSD8, MGAT2, MICU1, MMAA, MMAB, MMACHC, MMADHC, MOCOS, MOCS2, MOGS, MPDU1, MPI, MTHFR, MTO1, MTR, MUT, NGLY1, NHLRC1, NSDHL, NUS1, OTC, OXCT1, PAH, PC, PCBD1, PCCA, PCCB, PCK1, PDHA1, PDHB, PDHX, PDP1, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIGA, PIGL, PIGM, PIGN, PIGO, PIGS, PIGT, PIGV, PIGW, PMM2, PNP, PNPLA2, PNPO, POMGNT1, POMGNT2, POMT1, POMT2, PPOX, PPT1, PRKAG2, PRKAG3, PRODH, PYGL, PYGM, RBCK1, RFT1, RXYLT1, SCN4A, SCP2, SEC23B, SI, SLC16A1, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC2A2, SLC30A2, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC39A8, SLC40A1, SLC5A1, SLC6A8, SLC7A7, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, SUGCT, TAT, TAZ, TCN2, TFR2, TMEM165, TMEM199, TPP1, TRAPPC11, TRIM37, TUSC3, UMPS, UROD, UROS, XDH, XYLT1, XYLT2
Monogenic obesity – 70 genes
ADCY3, ADRB1, ADRB2, ADRB3, ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, C8orf37, CARTPT, CCDC28B, CEP19, CEP290, CPE, CUL4B, DYRK1B, FMR1, FTO, GHSR, GNAS, GNPDA2, IFT172, IFT27, IFT74, IRS1, LEP, LEPR, LZTFL1, MAGEL2, MAP2K5, MC3R, MC4R, MKKS, MKS1, NCOA1, NEGR1, NPY, NR0B2, NTRK2, PCSK1, PHF6, PHIP, POMC, PPARG, PYY, RAI1, RPTOR, SDCCAG8, SEC16B, SH2B1, SIM1, SLC6A14, TCF7L2, TMEM18, TMEM67, TRIM32, TTC8, UCP1, UCP2, UCP3, VPS13B, WDPCP
Inherited metabolic disorders of complex molecules – 202 genes
ABCD1, ABCD3, ACOX1, AGA, AGK, AGPS, AGXT, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, AMACR, ARSA, ARSB, ARSE, ARSG, ASAH1, ATP13A2, ATP6AP1, ATP6V0A2, ATP7A, ATP7B, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALT1, B4GALT7, BMP2, C1GALT1C1, CAD, CAT, CCDC115, CHST14, CHST3, CHST6, CHSY1, CLN3, CLN5, CLN6, CLN8, COG1, COG2, COG4, COG5, COG6, COG7, COG8, CP, CTNS, CTSA, CTSD, CTSF, CTSK, DDOST, DHDDS, DNAJC5, DNM1L, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYM, EBP, EXT1, EXT2, FAR1, FKRP, FKTN, FTH1, FUCA1, FUT8, GAA, GALC, GALNS, GALNT12, GALNT3, GBA, GFPT1, GLA, GLB1, GLS, GM2A, GMPPA, GMPPB, GNE, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GRHPR, GRN, GUSB, HAMP, HEXA, HEXB, HFE, HGSNAT, HJV, HOGA1, HSD17B4, HYAL1, IDS, IDUA, ISPD, KCTD7, LAMP2, LARGE1, LFNG, LIPA, MAGT1, MAN1B1, MAN2B1, MANBA, MCOLN1, MFSD8, MGAT2, MOGS, MPDU1, MPI, NAGA, NAGLU, NEU1, NGLY1, NPC1, NPC2, NSDHL, NUS1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP2, PGAP3, PGM1, PGM3, PHYH, PIGA, PIGL, PIGM, PIGN, PIGO, PIGS, PIGT, PIGV, PIGW, PMM2, POMGNT1, POMGNT2, POMT1, POMT2, PPT1, PSAP, RFT1, RXYLT1, SCP2, SEC23B, SGSH, SLC17A5, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC39A8, SLC40A1, SMPD1, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, SUGCT, SUMF1, TFR2, TMEM165, TMEM199, TPP1, TRAPPC11, TRIM37, TUSC3, XYLT1, XYLT2
Lysosomal storage disorders – 51 genes
AGA, ARSA, ARSB, ARSG, ASAH1, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSD, CTSK, DNAJC5, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNE, GNPTAB, GNPTG, GNS, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, LAMP2, LIPA, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1
Mucopolysaccharidosis – 11 genes
ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH
Peroxisomal disorders – 36 genes
ABCD1, ABCD3, ACOX1, AGK, AGPS, AGXT, AMACR, ARSE, CAT, DNM1L, DYM, EBP, FAR1, GNPAT, GRHPR, HOGA1, HSD17B4, NSDHL, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SUGCT, TRIM37
Congenital disorders of glycosylation – 102 genes
ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6AP1, ATP6V0A2, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALT1, B4GALT7, C1GALT1C1, CAD, CCDC115, CHST14, CHST3, CHST6, CHSY1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, EXT1, EXT2, FKRP, FKTN, FUT8, GALNT12, GALNT3, GFPT1, GLS, GMPPA, GMPPB, GNE, GORAB, ISPD, LARGE1, LFNG, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, NUS1, PGAP2, PGAP3, PGM1, PGM3, PIGA, PIGL, PIGM, PIGN, PIGO, PIGS, PIGT, PIGV, PIGW, PMM2, POMGNT1, POMGNT2, POMT1, POMT2, RFT1, RXYLT1, SEC23B, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC39A8, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, TMEM165, TMEM199, TRAPPC11, TUSC3, XYLT1, XYLT2
Metal storage disorders – 10 genes
ATP7A, ATP7B, BMP2, CP, FTH1, HAMP, HFE, HJV, SLC40A1, TFR2
Diseases caused by the accumulation of toxic substances – 69 genes
ABAT, ACAD8, AGPS, ALDH4A1, ALDH5A1, ALDOB, AMT, APRT, ARG1, ARSE, ASPA, ASS1, BCKDHA, BCKDHB, CA5A, CBS, D2HGDH, DBT, DNAJC12, EBP, ETHE1, FAH, GALE, GALK1, GALT, GCDH, GCSH, GLDC, GLUL, GNMT, GNPAT, GSS, HAL, HGD, HPRT1, IVD, LMBRD1, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MOCOS, MTHFR, MTR, MUT, OTC, OXCT1, PAH, PCBD1, PCCA, PCCB, PEPD, PEX7, PNP, PNPO, PPM1K, PRODH, SI, SLC25A13, SLC25A15, SLC5A1, SLC7A7, TAT, TCN2, UMPS, XDH
Metabolopathies due to deficits in energy metabolism – 53 genes
ACADM, ACADS, ACADVL, ACAT1, AGL, ALDH3A2, ALDOA, ALDOB, CPT1A, CPT2, DLAT, ENO3, EPM2A, FBP1, FH, G6PC, GAA, GAMT, GBE1, GYG1, GYS1, GYS2, HADHA, HADHB, LAMP2, LDHA, LIAS, NHLRC1, PC, PCK1, PDHA1, PDHB, PDHX, PDP1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PRKAG3, PYGL, PYGM, RBCK1, SLC16A1, SLC22A5, SLC25A20, SLC2A2, SLC37A4, SLC6A8
Glycogenosis – 30 genes
AGL, ALDOA, ALDOB, ENO3, EPM2A, FBP1, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, NHLRC1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PRKAG3, PYGL, PYGM, RBCK1, SLC2A2, SLC37A4
Enfermedad de Wilson. Secuenciación gen ATP7B – 1 gen
ATP7B
Enfermedad de Fabry. Secuenciación gen GLA – 1 gen
GLA