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connective tissue disorders panel  (Invitae Inc)

 
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    Invitae Inc connective tissue disorders panel
    Connective Tissue Disorders Panel, supplied by Invitae Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/result/connective tissue disorders panel/product/Invitae Inc
    Average 90 stars, based on 1 article reviews
    connective tissue disorders panel - by Bioz Stars, 2026-06
    90/100 stars

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    FMR1 gene repeat testing in female patients presenting for heritable connective tissue disorders (HCTDs). Flow chart with details for patients who presented to the genetics clinic over a 3.5-year period. Next-generation sequencing results for genes included on commercially available connective tissue disorder testing panels were evaluated for 80 unrelated female patients. Unrelated female patients with no variants or variants of unknown significance (VUS) reported as ACMG-classified pathogenic, likely pathogenic or determined potentially pathogenic based on allele frequency, biological conservation, Grantham distance and damaging in silico predictions were followed up with FMR1 triplet repeat testing using an approved polymerase chain reaction (PCR), given a sufficient DNA sample was available.

    Journal: International Journal of Molecular Sciences

    Article Title: Connective Tissue Disorders and Fragile X Molecular Status in Females: A Case Series and Review

    doi: 10.3390/ijms23169090

    Figure Lengend Snippet: FMR1 gene repeat testing in female patients presenting for heritable connective tissue disorders (HCTDs). Flow chart with details for patients who presented to the genetics clinic over a 3.5-year period. Next-generation sequencing results for genes included on commercially available connective tissue disorder testing panels were evaluated for 80 unrelated female patients. Unrelated female patients with no variants or variants of unknown significance (VUS) reported as ACMG-classified pathogenic, likely pathogenic or determined potentially pathogenic based on allele frequency, biological conservation, Grantham distance and damaging in silico predictions were followed up with FMR1 triplet repeat testing using an approved polymerase chain reaction (PCR), given a sufficient DNA sample was available.

    Article Snippet: Approximately 75 genes are recognized to cause hereditary connective tissue disorders, as examined using a comprehensive connective tissue disorder gene panel with NGS performed at Fulgent Genetics.

    Techniques: Next-Generation Sequencing, In Silico, Polymerase Chain Reaction