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

      • Mucopolysaccharidosis [11 genes]

        Ref.: S-202008340|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

    • Glycogenosis [30 genes]

      Ref.: S-202009807|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

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

Includes more than 290 microdeletion/microduplication syndromes

Array analysis allows assessing gains or losses in the number of DNA copies in all the genetic material of the patient. In the field of Cardiology, it is considered a first-line study in cases of patients with congenital heart disease associated with other malformations, especially intellectual disability, autism and/or multiple congenital malformations. SNP-array analysis can detect copy number variations (CNV) in all genetic material, making it possible to confirm or rule out microdeletion or microduplication syndromes, such as the 22q11 deletion (velocardiofacial syndrome), the 7q11 deletion (syndrome of Williams), etc.

Indication of genetic study. It is considered a first-line study in individuals evaluated postnatally for non-specific multiple congenital anomalies and/or intellectual disability.

It presents as advantages the possibility of analyzing DNA from almost any tissue, including non-cultured tissue; detection of cytogenetic abnormalities not detected by conventional analysis; determination of breakpoints in chromosomal rearrangements and detection of loss of heterozygosity (SNP arrays only).

This technique also has certain limitations. One of them is that it does not detect balanced chromosomal rearrangements (balanced translocation or inversion); however, it can determine whether the rearrangements show gains or losses at break points. It also does not detect low-level mosaicism, triploidies, tetraploidies, or other levels of polyploidies, or some aneuploidies such as XYY. Also, CNVs from genomic regions are not covered in the platform. Furthermore, the level of detection depends on the density of the study. It does not allow detection of point mutations and gene expression or methylation analysis. It also has limitations in the case of trisomy secondary to a translocation (trisomy 13 and 21).

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.

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