Table 1.

Summary of Molecular Genetic Testing Used in Spastic Paraplegia 7

Gene SymbolTest MethodMutations DetectedMutation Detection Frequency by Test Method 1
SPG7Sequence analysisSequence variants 2100% 3
Deletion / duplication analysis 4Deletions, including the 9.5-kb deletion 5
1.

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

2.

Examples of mutations detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site mutations.

3.

The disease is defined by presence of an SPG7 mutation; therefore, the mutation detection rate is by definition 100%.

4.

Testing that identifies deletions/duplications not readily detectable by sequence analysis of genomic DNA; a variety of methods including quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), or targeted array GH (gene/segment-specific) may be used. A full array GH analysis that detects deletions/duplications across the genome may also include this gene/segment.

5.

See Table 4 (pdf).

From: Spastic Paraplegia 7

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