Panel name | NGS Arthrogryposis |
---|---|
Panel method | Targeted NGS |
Panel version ** | AGPv6 |
Panel quality *** | A |
Core-NL | No core-NL genes included |
CNV analysis | Yes |
Location | Location AMC |
Genes (8) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
---|---|---|---|---|---|
ECEL1 | A | 100.00 | 100.00 | ||
MYBPC1 | A | 100.00 | 100.00 | ||
MYH3 | A | 100.00 | 100.00 | ||
MYH8 | A | 100.00 | 100.00 | ||
PIEZO2 | A | 100.00 | 100.00 | ||
TNNI2 | A | 100.00 | 100.00 | ||
TNNT3 | A | 100.00 | 100.00 | ||
TPM2 | A | 100.00 | 100.00 |
Indication(s) |
---|
Arthrogryposis distal |
** For information on previous versions of this panel, please contact the Genome Diagnostics Laboratory
*** NGS panel genes can be analyzed with different quality. More info about test quality type A, C or A/C