NGS Prenatal

NIMSEQ® PRENATAL

Targeted gene panel sequencing for a specific phenotype.

For cases where there is a known genetic pathology or a defined phenotype, we recommend a limited approach to a set of genes that explain a significant percentage of the fetal abnormalities.

This test is indicated in:

• Pregnancies with defined phenotypes, after evaluating the list of candidate genes.
• Genetic evaluation of fetal remains.
• Recurrent miscarriages with similar phenotypes

If a variant is identified in the prenatal sample, NIMGenetics will perform the necessary segregation analyses to determine the inheritance pattern, confirming or ruling out its association with the phenotype.

Turnaround time: 20 working days from receipt of the sample.
Reference: Check here

Please remember to attach the Application Form and Informed Consent Form to the sample, which you will find on the right.

EXONIM®  PRENATAL TARGETED

Based on sequencing the 19,000 genes of the whole exome, ExoNIM® Prenatal Targeted allows us to perform a targeted analysis of selected genes according to the fetal phenotype.

This approach offers a greater diagnostic yield, as it allows us to extend the study to ExoNIM®  Prenatal Trio through parallel sequencing of the parents, if required.

Carrying out a preliminary study of the genes being analysed is essential in order to evaluate coverage and rule out the presence of homologous regions in the selected genes.

These tests are indicated in:

• Pregnancies with defined phenotypes.
• Genetic evaluation of fetal remains.
• Recurrent miscarriages with similar phenotypes.

If a variant is identified in the prenatal sample, NIMGenetics will perform the necessary segregation analyses to determine the inheritance pattern, confirming or ruling out its association with the phenotype.

Turnaround time: 20 working days from receipt of the sample.
Reference: Check here

Please remember to attach the Application Form and Informed Consent Form to the sample, which you will find on the right.

EXONIM® PRENATAL TRIO

ExoNIM®  Prenatal TRIO provides a complete response in the shortest possible time. By simultaneously sequencing parent and proband exomes, we can prioritise the fetal phenotype and segregate the variants. This approach helps to identify the causal variants of the patient's phenotype.

The main advantages of this approach are:

• Increasing the number of genes included in the analysis beyond the established differential diagnosis.
• Highest yield approach in the diagnosis of ultrasound abnormalities or non-specific clinical suspicion of neurodevelopmental disorders.
• Establishing the inheritance pattern of all identified variants of any gene.
• Speeding up the diagnostic process, avoiding unnecessary tests.

The variants included in the ExoNIM®  Prenatal Trio report are pathogenic and likely pathogenic with evidence of association with the patient's phenotype. The remaining variants are available upon the request of the specialist.

Fetal remains testing includes:

• Pathogenic, likely pathogenic and variants of uncertain significance in genes with a phenotype associated with the reason for consultation.

• Based on artificial intelligence algorithms, variants without OMIM phenotype but with clear evidence in the consulted literature are also reported. According to segregation, these variants might correspond to:
  
  • De novo variants.
  • Homozygous or hemizygous variants.
  • Compound heterozygous variants.
  • Pathogenic variants in carrier state with multiple evidence of phenotypic association.

This test also includes:

• Screening for pathogenic and likely pathogenic CNVs associated with the phenotype (only if validated by alternative methods, such as array or MLPA).
• If the IC form indicates the parents’ wish to receive information on incidental findings, they will be informed in accordance with ACMG recommendations on the 59 actionable genes, evaluating the variant categorisation and age of the proband.

PLEASE NOTE: To carry out this test, it is essential that the prenatal sample is accompanied by the parents’ blood samples to rule out maternal contamination of the prenatal sample and to perform the family segregation analysis following the results of the test.

Turnaround time:  20 working days from receipt of the sample.
Reference: Check here

Please remember to attach the Application Form and Informed Consent Form to the sample, which you will find on the right.

NIMSEQ® PRENATAL NOONAN

Genetic testing for Noonan syndrome and other rasopathies in fetal samples. This system is based on NGS (Next-Generation Sequencing) and ensures full coverage of the 14 genes previously associated with this syndrome.

If a variant is identified in the prenatal sample, NIMGenetics will perform the necessary segregation analyses to determine the inheritance pattern, confirming or ruling out its association with the phenotype.

Turnaround time: 30 working days from receipt of the sample.
Reference: REP7001

Please remember to attach the Application Form and Informed Consent Form to the sample, which you will find on the right.

SANGER TESTING FOR POINT MUTATIONS

Indicated in cases where there is a known genetic pathology, and a molecular study has been carried out previously on a direct relative.

The test is performed on amniotic fluid or a chorionic villus biopsy, and it is also essential to have a peripheral blood sample from the parents and/or previously diagnosed relative.

Turnaround time:  20 working days from receipt of the sample.
Reference: CHECK