Microarrays for Carrier Screening Research

Build a healthier future with trusted and proven microarray solutions

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.

Workflow

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.

Product overview

CarrierScan 1S Assay

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
Sequence Structural
Hyperinsulinemic hypoglycemia familial 1 ACCC8 82  
Canavan disease ASPA 48  
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
Bloom syndrome BLM 54  
Cystic Fibrosis CFTR 661 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
 FANCG 9  
Fukitin FKTN 10  
Glycogen storage disease type IA G6PC 71  
Glycogen storage disease type IB SLC37A4 16  
Gaucher disease GBA 30  
a-Thalassemia HBA1/HBA2 12 Yes
Sickle-cell disorders and b-Thalassemia HBB 126 Yes
Tay sachs disease HEXA 85 Yes
Familia dysautonomia IKBKAP 3  
Mucolipidosis IV MCOLN1 15 Yes
Myeloproliiferative leukemia virus oncogene MPL 11  
Nevulin NEB 7 Yes
Protocadherin-related 15 PCDH15 9  
Neimann-Pick disease type A/B SMPD1 52  
Joubert syndrome 2 TMEM216 7  
Joubert syndrome 7 RPGRIP1L 2  
Spinal muscular atrophy SMN1 11 Yes

Custom CarrierScan arrays

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.

CarrierMax FMR1 Assay

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.

CarrierMax SMN1/SMN2 Assay

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 System 36 samples 48 samples

Throughput of Applied Biosystems genetic analyzers that support the CarrierMax kits
 

    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 System 4 75 min 12 samples 30 min 32 samples

 

The CarrierMax FMR1 and SMN1/SMN2 reagent kits have been shown by customers to successfully run on the Applied Biosystems 3730 DNA Analyzer, and they are fully compatible with the SeqStudio Flex Genetic Analyzer.

Product specifications

CarrierScan

CarrierMax FMR1

CarrierMax SMN1/SMN2
Description
High-throughput, cost-effective, pan-ethnic panel with simple data analysis, reporting,and exporting  Accurate, reliable, and cost-effective analysis of FMR1 gene CGG repeat units. Accurate, reliable, and cost-effective analysis of SMN1 and SMN2 genes, including single nucleotide polymorphisms (SNPs) for 2+0 risk assessment
Research applications
Expanded carrier screening / multi-gene study Primary or secondary single gene testing Primary or secondary single gene testing
Method

Microarray

Capillary Electrophoresis

Capillary Electrophoresis
Platform
GTMC SeqStudio, 3500/3500XL genetic analyzers SeqStudio, 3500/3500XL genetic analyzers
Content

CNV and SNV detection of over 600 genes with  >1100 verified mutations

 A dual PCR system combining full-length and triplet-primed PCR amplification (TP-PCR) to detect the number of CGG repeats in the FMR1 gene 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
Throughput
96 samples/run 36, 72 or 216 samples/ run 48, 184 or 384 samples / run

Ordering information

For Research Use Only. Not for use in diagnostic procedures.