approved connective tissue panel  (Fulgent Genetics)

Journal: BMC Medical Genomics

Article Title: Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study

doi: 10.1186/s12920-022-01321-w

Figure Lengend Snippet: Clinical signs and symptoms of 100 consecutive patients presenting for genetic services with features of a connective tissue disorder

Article Snippet: Sequenced genes included the approved connective tissue panel from Fulgent ( https://www.fulgentgenetics.com/Connective-Tissue ) as well as additional genes selected based on current evidence in the field and the expertise of the senior author (Additional file : Table S1).

Techniques:

Journal: BMC Medical Genomics

Article Title: Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study

doi: 10.1186/s12920-022-01321-w

Figure Lengend Snippet: Genetic and phenotypic profiles of 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. Presence of symptoms observed across seven biological systems and next-generation sequencing results for 74 genes included on commercially available connective tissue disorder testing panels were evaluated for 100 unrelated patients. Variants reported as unknown clinical significance (VUS) according to ACMG classifications were further evaluated for potential pathogenicity based on allele frequency, biological conservation, Grantham distance and damaging in silico predictions. Shown are system symptom comparisons for patients with pathogenic (in green) or likely pathogenic (in blue) variants in the same genes as those with potentially pathogenic VUSs (in gray). Reported inheritance patterns are also noted; R = autosomal or X-linked recessive, D = autosomal or X-linked dominant, R/D indicates both autosomal or X-linked recessive and dominant have been reported

Article Snippet: Sequenced genes included the approved connective tissue panel from Fulgent ( https://www.fulgentgenetics.com/Connective-Tissue ) as well as additional genes selected based on current evidence in the field and the expertise of the senior author (Additional file : Table S1).

Techniques: Next-Generation Sequencing, In Silico

Journal: BMC Medical Genomics

Article Title: Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study

doi: 10.1186/s12920-022-01321-w

Figure Lengend Snippet: Relationships among symptoms across seven organ systems in HCTD patients . Shown are results of chi-square (χ2) tests comparing symptoms among seven organ systems in patients with heritable connective tissue disorders (HCTDs). Systems evidenced to be independent, based on unadjusted p ≥ 0.10, were subsequently included in LCA models. Specific clinical features and percentages reflecting the overall system with symptoms present can be found in Table 1 . Included are Benjamini–Hochberg adjusted p values. Expected counts were rounded to the nearest whole number. Abbreviations: obs = observed, exp = expected, OR = odds ratio, CI = confidence interval

Article Snippet: Sequenced genes included the approved connective tissue panel from Fulgent ( https://www.fulgentgenetics.com/Connective-Tissue ) as well as additional genes selected based on current evidence in the field and the expertise of the senior author (Additional file : Table S1).

Techniques:

Journal: BMC Medical Genomics

Article Title: Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study

doi: 10.1186/s12920-022-01321-w

Figure Lengend Snippet: Detection of unique classes of symptom profiles among patients. Shown are statistics on the y-axis calculated for latent class analysis of the possibility of distinct patient groups based on four models of symptom and demographic profiles. For each model, the number of evaluated groups are on the x-axis and ranged from the undivided dataset (1 group) to seven groups. Models 1 and 2 evaluated patient classes based on symptoms in skeletal, connective tissue, nervous, gastrointestinal, and cardiovascular systems; Model 2 included age and gender. Models 3 and 4 evaluated skeletal, skin, eye, nervous, gastrointestinal, and cardiovascular system symptoms with age and gender in Model 4. The y-axis was split to visualize statistics measured on different scales. Akaike (AIC; blue circles) and Bayesian information criterion (BIC; red triangles) values ranged from 611 to 960. Pearson’s chi-square goodness of fit (Chisq; yellow squares) and likelihood ratio chi-square (Gsq; gray diamonds) values ranged from 2 to 48. The optimal result was achieved using Model 2 to group patients into three classes which reflected the lowest AIC value and maintained smaller values for other statistics

Article Snippet: Sequenced genes included the approved connective tissue panel from Fulgent ( https://www.fulgentgenetics.com/Connective-Tissue ) as well as additional genes selected based on current evidence in the field and the expertise of the senior author (Additional file : Table S1).

Techniques:

Journal: BMC Medical Genomics

Article Title: Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study

doi: 10.1186/s12920-022-01321-w

Figure Lengend Snippet: Differences in symptoms, ages, and gender of HCTD patients by latent class . Reported are Fisher’s exact test results for differences in the number of patients with symptoms observed in evaluated organ systems among all of the latent classes (see Fig. 2 for details on latent class analysis results). The proportion of patients assigned to each class with the symptom, as well as comparisons of ages (along with means ± standard deviations and ranges) are provided. Specific clinical features and percentages reflecting the overall system with symptoms present can be found in Table 1 . Unadjusted and Benjamini–Hochberg adjusted p values are provided

Article Snippet: Sequenced genes included the approved connective tissue panel from Fulgent ( https://www.fulgentgenetics.com/Connective-Tissue ) as well as additional genes selected based on current evidence in the field and the expertise of the senior author (Additional file : Table S1).

Techniques:

Journal: BMC Medical Genomics

Article Title: Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study

doi: 10.1186/s12920-022-01321-w

Figure Lengend Snippet: Direct comparisons of symptoms and demographics between latent class . Reported are Fisher’s exact test results for differences in the number of patients with symptoms observed in evaluated organ systems between each of the latent classes (see Fig. 2 for details on latent class analysis results). Unadjusted and Benjamini–Hochberg adjusted p values are provided

Article Snippet: Sequenced genes included the approved connective tissue panel from Fulgent ( https://www.fulgentgenetics.com/Connective-Tissue ) as well as additional genes selected based on current evidence in the field and the expertise of the senior author (Additional file : Table S1).

Techniques: Comparison