Sequencing Panels

Turnaround time (TAT): 5 weeks

Early atherosclerosis and endocrine disorders
Lipid metabolism disorders
  • Lipid metabolism disorders comprehensive panel [78 genes + hypolipidemic agent pharmacogenetics + genetic risk for coronary disease]
    • Comprehensive panel [13 genes + hypolipidemic agent pharmacogenetics + genetic risk for coronary disease]
    • Basic plus panel [5 genes + hypolipidemic agent pharmacogenetics + genetic risk for coronary disease]
    • Basic panel [6 genes]
  • Primary/polygenic hypertriglyceridemia and familial combined hyperlipidemia [47 genes]
  • Lipodystrophies [15 genes]
  • Hypolipidemias [14 genes]
Endocrine disorders
  • Endocrine disorders comprehensive panel [435 genes]
  • Thyroid diseases [36 genes]
  • Disorders of sex development, alterations in the hypothalamicpituitary-gonadal axis, and infertility [125 genes]
    • Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. CYP21A2 (Sanger and MLPA)
    • Adrenal diseases [53 genes]
    • Monogenic diabetes, hyperinsulinemias, and monogenic hypoglycemias [81 genes]
    • Maturity-onset diabetes of the young (MODY) [15 genes]
    • Pancreatitis and pancreatic insufficiency [15 genes]
  • Pituitary disorders and short stature [88 genes]
  • Phosphocalcic metabolism disorders [37 genes]
  • Multi-endocrine disorders [6 genes]
  • Monogenic obesity [70 genes]
Inborn errors of metabolism
  • Inborn errors of metabolism comprehensive panel [305 genes]
      • Mucopolysaccharidosis [11 genes]
      • Neuronal ceroid lipofuscinosis [13 genes]
    • Peroxisomal disorders [36 genes]
    • Congenital disorders of glycosylation [102 genes]
    • Metal storage disorders [10 genes]
  • Toxic matter storage diseases comprehensive panel [68 genes]
    • Glycogenosis [30 genes]

Otros servicios

Exome sequencing

Check all the exomes that we offer, through Imegen's website, with the following link:

See all exomes
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).

NextGenDx® massive sequencing (NGS)

TAT (turnaround time): 35 days

Next Generation Sequencing (NGS), or massive sequencing, is a term used to describe a group of newly developed technologies able to perform massive DNA sequencing. This means that millions of small DNA fragments can be sequenced at once, generating a vast amount of data. These data can add up to gigabytes of information, equivalent to 1,000 millions of DNA base pairs. In comparison, formerly used methods could only sequence one DNA fragment at a time, generating between 500 and 1,000 DNA base pairs in a single reaction.

NextGenDx® is indicated when a specific group of genes needs to be analyzed at the highest levels of diagnostic accuracy. It is aimed at:

  • Monogenic diseases or diseases associated with a small number or large genes.
  • Multigenic or genetically heterogeneous diseases with complex differential diagnosis.
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.

SNP array

TAT (turnaround time): 35 days

They include more than 290 microdeletion/microduplication syndromes

Array analysis allows detecting copy number gains or losses throughout the whole genetic material of the patient. Within the field of cardiology, it is considered a first-line test for patients with congenital heart disease associated with other malformations, particularly intellectual disability, autism spectrum disorders, and/or multiple congenital malformations. SNP array testing can detect copy number variations (CNVs) throughout the whole genetic material and allows confirming or ruling out microdeletion/microduplication syndromes, such as deletion 22q11 (velocardiofacial syndrome), deletion 7q11 (Williams syndrome), etc.

Indication for genetic testing. It is considered a first-line test in postnatal analysis for multiple non-specific congenital abnormalities and/or mental retardation/intellectual disability.

Among its advantages are the possibility of testing DNA from virtually any tissue, including non-cultured tissue; the detection of citogenetic abnormalities that cannot be detected by conventional tests; the identification of breakage points in chromosomal rearrangements, and the detection of loss of heterozygosity (SNP array only).

However, this technique also has some limitations. One of them is that it cannot detect balanced chromosomal rearrangements (balanced translocations or inversions); however, it can determine whether rearrangements show losses or gains at breakage points. Likewise, it cannot detect low-level mosaicism, triploidy and other levels of polyploidy, or some aneuploidies such as XYY. CNVs from genomic regions are not covered by the platform. Moreover, the level of detection depends on study density. It does not allow detecting point mutations or gene expression, nor does it allow for methylation analysis. It also shows some limitations in the case of trisomies secondary to translocations (trisomies 13 and 21).

Array CGH

TAT (turnaround time): 35 days

It is also known as molecular karyotyping, and its main advantage over classic karyotyping is its high sensitivity, which allows detecting structural variants that go unnoticed in conventional karyotyping. CGH array technology allows detecting losses and gains of genetic material and unbalanced rearrangements throughout the whole genome of an individual. Postnatal CGX 108K is specifically designed for genetic diagnosis. Its mean resolution is 100 kb over the whole genome, and high resolution is 20 kb for regions of interest of the genome (regions with direct association between copy number variations and a described pathology or syndrome). Array 37K is specifically designed for prenatal diagnosis and allows detecting genetic and chromosomal alterations with a single test. Its resolution is 10 times greater than that of conventional karyotyping and 50 times greater in critical regions for the main syndromes. Without substantially decreasing resolution in regions of interest, CGX 37K shows low coverage levels in the rest of the genome in order to minimize diagnostic uncertainty.

Variant segregation / Family studies

TAT (turnaround time): 2 weeks

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

In vitro testing for splicing variants

The normal gene transcription process allows correctly removing introns and joining exons together (splicing process) in messenger RNA to generate functional proteins. Advances in genomics have allowed expanding sequencing to non-coding regions located far away from canonical regions flanking exons. Variants affecting pre-RNA splicing (splice-site variants) are disease-causing with an estimated frequency of 15-50%, depending on the studied pathology.

These variants can induce exon exclusion, activation of cryptic splice sites, or total or partial intron retention, leading to an abnormal reading frame. These reading frame abnormalities often generate a premature stop codon in messenger RNA, which may either be degraded at the cellular level or generate a truncated or aberrant protein, with the subsequent loss of function.

In silico bioinformatic prediction tools do not always determine the degree of involvement of variants in splicing defects. Ex vivo functional RNA studies allow determining the impact of genetic variants on splicing and their underlying molecular mechanisms, therefore providing knowledge that can be transferred to clinical diagnosis.

Diego Alonso García, MD

Head of the area of Early astheroclerosis, endocrine diseases, and congenital metabolism disorders

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