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GTR Home > Tests > Inheritest 300 PLUS Panel



Molecular Genetics
DDeletion/duplication analysis
XMutation scanning of select exons
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Test comments


For individuals with two copies of the SMN1 gene, testing for the presence or absence of the variant c.*3+80T>G will be performed to help evaluate the risk of being a silent carrier (2+0). SMN2 copy number analysis is automatically performed when 0 copies of SMN1 are detected.

Next-generation sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions, deletions, and copy number variants (CNVs).

For premutation carriers with 55-90 CGG repeats, reflex AGG analysis will be automatically performed and reported with the Fragile X results.

Test development


Not provided

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