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GeneticSure|ACMG-ACOG Full gene

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Condition Description Indications
Detection Specimen Requirements

Condition Description

GeneticSure|ACMG-ACOG Carrier screening for cystic fibrosis, spinal muscular atrophy (SMA), Bloom syndrome, Fanconi anaemia type C, Gaucher disease, Niemann-Pick type A, and Mucolipidosis IV as recommended by American College of Medical Genetics (ACMG) and four conditions  like Tay-Sachs, Canavan disease, cystic fibrosis, and familial dysautonomia as  recommended by American Congress of Obstetricians and Gynecologists (ACOG).

This panel is available as full gene sequencing by ECGI also offers single-gene sequencing for all genes on the panel, which may be utilized to more completely screen partners of positive carriers.

Although a positive test result should not affect the health of the individual, she could be at a 25% risk for passing that condition on to her children depending on the carrier status of the partner. In addition to the specific pathogenic variants identified by the panel, Eurofins Clinical Genetics  also offers single-gene, full gene sequencing for genes on the panel, which can be utilized to screen partners of positive carriers. Knowing about these risks ahead of time can help couples make decisions about testing options prior to and during pregnancy, and can help healthcare providers be more readily prepared to offer appropriate follow-up care at delivery.

Genes

ASPA, BLM, CFTR, FANCC, GBA, HEXA, IKBKAP, MCOLN1, SMN1, SMPD1

Indications                                                                

This test is indicated for:

  • Individuals or couples seeking to assess reproductive risk for a variety of conditions.
  • Individuals or couples of high-risk ethnic groups or backgrounds.

Methodology

Next Generation Sequencing: In-solution hybridization of all coding exons is performed on the patient’s genomic DNA. Although some deep intronic regions may also be analyzed, this assay is not meant to interrogate most promoter regions, deep intronic regions, or other regulatory elements, and does not detect single or multi-exon deletions or duplications. Direct sequencing of the captured regions is performed using next generation sequencing. The patient's gene sequences are then compared to a standard reference sequence. Only known pathogenic variants will be reported.

Spinal Muscular Atrophy (SMA) Testing: SMN1 gene  deletions were quantified by multiplex ligation polymerase chain  reaction amplification (MLPA) of exons 7 and 8. Gene dosage ratios of SMN1 are calculated relative to the average of 16 reference loci and are expressed as gene dosage, and/or copy number. Diploid gene dose or 2 copies of SMN1 indicates normal (not affected) status, 1x gene dosage or 1 copy of the SMN1 gene most likely indicates carrier status and deletions (less than 0.1x) of SMN1 or 0 copies of the SMN1 gene designates affected status. This carrier assay tests for the common SMN1 deletion only; other pathogenic variants will not be detected. SMN2 copy number is not assessed.  

Detection  

Next Generation Sequencing: Clinical Sensitivity: See results report. Pathogenic variants in regions other than the targeted area, including the promoter region, some mutations in the introns and other regulatory element mutations, cannot be detected by this analysis. Large deletions/duplications will not be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient's clinical/biochemical phenotype.

For Spinal Muscular Atrophy (SMA) Testing: Deletions of the SMN1 gene are found in approximately 95% of individuals with SMA. This carrier assay tests for the common SMN1 deletion only; other pathogenic variants will not be detected. SMN2 copy number is not assessed. 

Specimen Requirements    

Submit only 1 of the following specimen types

Type: EDTA Whole Blood;  Infants (2 years): 1-2 ml; Older Children & Adults: 5-10 ml.

Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.

Type: Isolated DNA in microtainer: 60ug isolated genomic DNA ( Isolation using the QiagenTM  Puregene kit for DNA extraction is recommended.)

Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer.