Table 1.

Summary of Molecular Genetic Testing Used in McLeod Neuroacanthocytosis Syndrome

Gene 1Test MethodPathogenic Variants Detected 2Variant Detection Frequency by Test Method 3
Affected MalesCarrier Females
XKSequence analysis 4Sequence variants 5Probably >95% 4, 5Probably >95% 6
Deletion/duplication analysis 7Exon and whole-gene deletion/duplicationProbably >95%Probably >95%
1.
2.

See Molecular Genetics for information on allelic variants.

3.

The ability of the test method used to detect a variant that is present in the indicated gene

4.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. 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.

5.

Lack of amplification by PCR prior to sequence analysis can suggest a putative deletion of one or more exons or the whole gene on the X chromosome in affected males; confirmation may require additional testing by deletion/duplication analysis.

6.

Sequence analysis of genomic DNA cannot detect deletion of one or more exons or the entire X-linked gene in a heterozygous female.

7.

Testing that identifies exon or whole-gene deletions/duplications not readily detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA; included in the variety of methods that may be used are: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.

From: McLeod Neuroacanthocytosis Syndrome

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