The American College of Medical Genetics (ACMG) recommends a shift away from single gene, ethnic-based panels to broader, population-based studies. With advances in microarray technology, labs can simultaneously study multiple structural and sequence variants across many genes. This enables consolidation of their existing tests to a single low cost, high throughput assay.
Our robust arrays with flexible content support your research lab to customize panels, helpful for starting small to get up and running quickly and expanding over time.
Thermo Fisher Scientific offers powerful microarray solutions which are powered with robust workflows that help make it easy to obtain consistent, reliable, and high-quality results critical to carrier screening research.
Our complete microarray platform includes assays, automated and manual target preparation options, fully kitted reagents, an array processing instrument, and data analysis software to enable simplified interpretation and reporting. These tools support laboratories to help maximize operational time.
The Applied Biosystems CarrierScan 1S Assay was designed to include variants recommended by ACMG and ACOG, in genes such as SMN1, CFTR, DMD, HBA1, HBA2 and HBB. The panel contains over 6,000 structural and sequence variants covering 600 genes. The table below provides a subset of the available genes and variants detected.
|Example content of the CarrierScan Assay including variants recommended by ACMG and ACOG|
|Disorder to study||Gene||Variants detected|
|Hyperinsulinemic hypoglycemia familial 1||ACCC8||82|
|Maple syrup urine disease, type IA||BCKDHA||24|
|Maple syrup urine disease, type IB||BCKDHB||32|
|Maple syrup urine disease, type II||DBT||9||Yes|
|Usher Syndrome type 3A||CLRN1||4|
|Dihydrol ipoamide dehydrogenase deficiency||DLD||10|
|Fanconi anemia, complementation group A||FANCA||21||Yes|
|Fanconi anemia, complementation group C||FANCC||30|
|Fanconi anemia, complementation group G
|Glycogen storage disease type IA||G6PC||71|
|Glycogen storage disease type IB||SLC37A4||16|
|Sickle-cell disorders and b-Thalassemia||HBB||126||Yes|
|Tay sachs disease||HEXA||85||Yes|
|Myeloproliiferative leukemia virus oncogene||MPL||11|
|Neimann-Pick disease type A/B||SMPD1||52|
|Joubert syndrome 2||TMEM216||7|
|Joubert syndrome 7||RPGRIP1L||2|
|Spinal muscular atrophy||SMN1||11||Yes|
Advance your research with custom CarrierScan arrays offering panel content tailored to your specific research needs. You can choose content from our catalog CarrierScan 1S array or your own variants of interest to generate high resolution and reproducible data from a single array.
With our custom arrays you have the flexibility to consolidate assays across multiple research applications, to help save time and money.
Detect the number of CGG repeats in the Fragile X Mental Retardation (FMR1) gene with our CarrierMax FMR1 assay. This assay kit uses a dual PCR system combining full length and triplet primed PCR amplification (TP-PCR), followed by fragment analysis to accurately determine up to 200 CGG repeats and detect alleles that are >200 CGG repeats.
The assay can be run in parallel with the CarrierScan assay or Ion Ampliseq CarrierSeq ECS Panel and combines results in the Carrier Reporter software for interpretation and reporting. This enables labs to implement a comprehensive expanded carrier screening research panel.
Due to the high sequence homology between SMN1 and SMN2, SMN1 is a difficult gene to resolve, and typically positive carrier results are confirmed by a secondary technology. The CarrierMax SMN1/SMN2 Assay uses multiplex PCR amplification of genomic DNA and capillary electrophoresis (CE) to detect deletions in exon 7 of the SMN1 gene that result in truncated SMN protein. In addition, the assay kit detects two variants associated with the silent carrier (2+0) haplotype.
This assay kit can be used to analyze SMN results from the Carrier Scan assay, Ion Ampliseq Carrier Seq ECS panel, or other SMN screening assays for your research needs.
|Instrument||FMR1 max sample setup per run (per 24 hr session)||SMN1/SMN2 max sample setup per run (per 24 hr session)|
|3500||72 samples||184 samples|
|3500 xL||216 samples||384 samples|
|SeqStudio||36 samples||48 samples|
|CarrierMax FMR1 Reagent Kit||CarrierMax SMN1/SMN2 Reagent Kit|
|Instrument||Capillaries||Run time (per sample)||Samples per 8 hr||Run time (per sample)||Sample per 8 hr|
|3500||8||75 min||24 samples||30 min||64 samples|
|3500xL||24||75 min||72 samples||30 min||192 samples|
|SeqStudio||4||75 min||12 samples||30 min||32 samples|
|High-throughput, cost-effective, pan-ethnic panel with simple data analysis, reporting,and exporting||Accurate, reliable, and cost-effective analysis of FMR1 genes||Accurate, reliable, and cost-effective analysis of SMN1 genes|
|Expanded carrier screening / multi-gene study||Single gene testing, primary or secondary||Primary or secondary single gene testing|
|GTMC||SeqStudio, 3500/3500XL||SeqStudio, 3500/3500XL|
CNV and SNV detection of over 600 genes with >1100 verified mutations
|Detect the number of CGG repeats in the FMR1 gene using a dual PCR system combining full-length and triplet primed PCR amplification (TP-PCR)||Multiplex PCR amplification and fragment analysis to detect deletions in exon 7 that result in truncated SMN protein and silent carrier (2+0) haplotype detection|
|96 samples/run||36, 72 or 216 samples/ run||48, 184 or 384 samples / run|
For Research Use Only. Not for use in diagnostic procedures.