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SPINAL MUSCULAR ATROPHY AND RELATED DISORDERS , NEXT-GENERATION SEQUENCING (NGS) 25 GENES

Test Code

5789

Gene/s
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25 genes

Specific Gene

ASAH1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, EXOSC3, EXOSC8, FBXO38, GARS1, HSPB1, HSPB3, HSPB8, IGHMBP2, PLEKHG5, REEP1, SCO2, SLC5A7, SMN1, TRPV4, UBA1, VAPB, VRK1

Analysis Methods

Massive sequencing data analysis (NGS)

Sample Requirements

5 mL whole blood (EDTA). Necessary clinical and family history.

TAT

30 days

Omim G

Omim F

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