Muscle weakness, early-onset, Floppy Infant
Genes Tested 132 Genes
- ACTA1
- AGRN
- AK9
- ALG14
- ALG2
- ANO5
- ASCC1
- B3GALNT2
- B4GAT1
- BICD2
- BIN1
- CAPN3
- CASQ1
- CAVIN1
- CCDC78
- CFL2
- CHAT
- CHKB
- CHRNA1
- CHRNB1
- CHRND
- CHRNE
- CNTN1
- COL12A1
- COL13A1
- COL6A1
- COL6A2
- COL6A3
- COLQ
- CRPPA
- DAG1
- DES
- DMD
- DNM2
- DOK7
- DOLK
- DPAGT1
- DPM1
- DPM2
- DPM3
- DYNC1H1
- DYSF
- EGR2
- EMD
- EPG5
- EXOSC3
- EXOSC8
- FHL1
- FKBP14
- FKRP
- FKTN
- GAA
- GARS1
- GBE1
- GDAP1
- GFPT1
- GMPPB
- GYG1
- HNRNPDL
- IGHMBP2
- ITGA7
- KBTBD13
- KLHL40
- KY
- LAMA2
- LAMA5
- LAMB2
- LAMP2
- LARGE1
- LAS1L
- LIMS2
- LMNA
- LMOD3
- LRP4
- MEGF10
- MFN2
- MICU1
- MLIP
- MPZ
- MTM1
- MUSK
- MYH7
- MYO18B
- MYO9A
- MYPN
- NEB
- NEFL
- ORAI1
- PIEZO2
- PLEC
- POMGNT1
- POMGNT2
- POMK
- POMT1
- POMT2
- PREPL
- RAPSN
- RBCK1
- RXYLT1
- RYR1
- SBDS
- SCN4A
- SELENON
- SGCA
- SGCB
- SGCD
- SGCG
- SLC25A1
- SLC25A26
- SLC52A3
- SLC5A7
- SMN1
- SNAP25
- STIM1
- SYNE1
- SYT2
- TCAP
- TK2
- TNNT1
- TNNT3
- TNPO3
- TNXB
- TOR1AIP1
- TPM2
- TPM3
- TRAPPC11
- TRIM32
- TRIP4
- TRPV4
- TTN
- UBA1
- VMA21
For the following gene, a dosage analysis is also included.
Test Information
Test Code |
037.05 |
Genes Tested |
132 Genes |
Method(s) |
Next Generation Sequencing (NGS) |
Sample Requirements |
2-4 ml EDTA blood Please click here for more detailed information |
Turnaround Time |
3-6 weeks |