Table 3.

Summary of Molecular Genetic Testing Used in Argininosuccinate Lyase (ASL) Deficiency

Gene 1Test MethodAllelic Variants Detected 2Variant Detection Frequency by Test Method 3
ASLSequence analysis 4Sequence variants~90%
Deletion/duplication analysis 5Exon or whole-gene deletionsUnknown
Targeted analysis for pathogenic variantsc.1153C>T100% for targeted variant
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.

Examples of pathogenic variants detected by sequence analysis 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.

Testing that identifies 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: Argininosuccinate Lyase Deficiency

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