Table 1.

Molecular Genetic Testing Used in NTRK1 Congenital Insensitivity to Pain with Anhidrosis

Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
NTRK1 Sequence analysis 3>97% 4, 5
Gene-targeted deletion/duplication analysis 6<3% 7, 8
1.

See Table A. Genes and Databases for chromosome locus and protein.

2.

See Molecular Genetics for information on variants detected in this gene.

3.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

4.

Miura et al [2000b], Indo [2001], Geng et al [2018], Li et al [2019], and data derived from the subscription-based professional view of Human Gene Mutation Databas [Stenson et al 2017]

5.

While two variants common in Asian populations, c.851-33T>A and c.[851_798C>T;851_794C>G], are detectable by sequence analysis, they are outside the range normally analyzed [Indo 2001, Geng et al 2018, Li et al 2019].

6.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

7.
8.

Detection rate varies by population. An intragenic deletion was observed in multiple Chinese families [Geng et al 2018].

From: NTRK1 Congenital Insensitivity to Pain with Anhidrosis

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