Turnaround time: Typically 10–21 days

Day 1
Testing these genes can: RXYLT1, SCN4A
RRM2B, Listed Genes TTN, TWNK, VCP
comprehensive neuromuscular TRAPPC11
TRIM32 Neuromuscular SUN1, SUN2
Day 2
Ordering: CNTN1, COL12A1, COL13A1
COQ9, COX15, COX20 healthcare provider
lab CRPPA request CPT2 Disorders Panel
management strategies LDHA, LMNA
Day 3
LMOD3 Invitae large disorder YARS2
TPM2, TPM3 wide range SMN2, SMPX
ATP5F1E Subunits of mitochondrial
Encodes the Na⁺/K⁺ ATPase SLC5A7
Day 4
SMCHD1 alpha-2 subunit DNAJB6, DNM2
SYNE1, critical for ion balance PGAM2, PGK1
Mitochondrial chaperone protein; PUS1
STAC3, SYT2, TANGO2 mutations PYGM
Day 5
in glial cells and neurotransmitter clearance.
Mutations are linked to GNE, MATR3
MEGF10, MGME1, MICU1,MYL2 familial
PYROXD1 mitochondrial encephalomyopathy
Day 6
variable neurological phenotypes SLC18A3
SLC25A20, alternating hemiplegia SDHA
SGCA, SGCB, E3 ubiquitin ligase FKBP14
involved in muscle development; FBXL4
Day 7
Mitochondrial solute carrier; DOK7, DPAGT1
FDX2, FHL1 implicated in myotonic dystrophy
ATP synthase (F1 complex) COL6A3, COLQ
POMT1, PREPL, GMPPB, HADHB, HMBS
Day 8
involved in nucleotide transport; COL6A2
Mitotic cell cycle regulator; SMN1, MYOT,
Synaptosomal-associated protein; TNNT1
TAFAZZIN, TCAP, TIA1 mutations can cause
Day 9
essential for synaptic vesicle fusion; FLNC, GAA
Nuclear envelope proteins HNRNPDL, ISCU,
ITGA7, KBTBD13 Cardiac troponin T; mutations
RNASEH1 nucleus to cytoskeleton; SLC25A42
Day 10
Why This Matters targeted testing
MYH2, MYH3, MYH7, Neuromuscular
Genes ABHD5, Comprehensive ACAD9
I am DNA. ACADM Disorder POMT2
Day 11
Interpretation: Results STIM1, SUCLA2,
SUCLG1 Panel ACADVL test code ACTA1
sequencing ADSS1 detect AGK, SELENON,
variants Functional and Clinical PNPLA8
Day 12
genetic AGL 128 I am Mom. PNPLA2, PLEC
AGRN, AHCY, ALDOA, ALG14, TSFM
I am afraid. Disorders RYR1, RAPSN
next‑generation ALG2, AMACR, AMPD1
Day 13
Inform treatment DYSF, EMD, ENO3
ANO5, fully included ATP2A1, TK2
To identify ATP7B Purpose MYO18B,
ATP1A2, ATP5F1D, ATP5F1E, reviewed by
Day 14
genetic causes B3GALNT2 sequencing
recurrence risk assessment Overview
B4GAT1, BAG3, BIN1, Methodology
diagnosis, prognosis, C1QBP, CACNA1S
Day 15
MAN2B1, neuromuscular specialist COL6A1
CAPN3, CASQ1, CAV3 single nucleotide
I fight. CCDC78 variants CFL2, CHAT
insertions, deletions, CHCHD10, family
Day 16
screening GOSR2, GYG1, GYS1, I want to live.
orthogonal confirmation HACD1, HADH
CHKB, CHRNA1, CHRNB1 reportable variants
CRYAB Specimen FKRP, FKTN, FLAD1
Day 17
HNRNPA2B1, muscle weakness SLC22A5
GFPT1, atrophy HADHA, ETFA, ETFB
POMGNT2, POMK, congenital LAMP2
PGM1, PHKA1, mitochondrial VMA21
Day 18
metabolic myopathies TYMP, VAMP1,
POGLUT1, pathogenic SLC16A1, TRMT5,
variants KCNJ2, KLHL40, KLHL41, counselor
CHRND, CHRNE, at‑risk SPEG, SQSTM1,
Day 19
Next Steps KLHL9, LAMB2, TNNT3 and TOP3A.
SGCD, SGCG, SIL1, pecimen requirements.
clinical significance MPV17, MTM1, MUSK,
DPM2, DPM3 Neurological Contexts TOR1AIP1
Day 20
LIMS2, LRP4, MCM3AP, MTMR14, SLC25A32,
SNAP25, POLG, POLG2, POMGNT1, RBCK1
CLCN1, SLC25A3, SYNE2, TMEM43, COQ2
DPM1,ETFDH, LPIN1,, MAP3K20, NEB, OPA1
Day 21
COQ4, COQ7, COQ8A,, COX6B1, CPT1A, CTDP1, DAG1
DDC, DES, DGUOK, DMD, DNA2, SLC25A4, TNPO3
GATM, GBE1, GFER, OPA3, ORAI1, MYPN, PHKB
LAMA2, LARGE1, LDB3, PDSS1, PDSS2, PFKM
Day 22
Congenital myopathies, Dystroglycanopathies
Mitochondrial, Rhabdomyolysis, Congenital
myasthenic syndromes, Clinical Utility, Glycogen
Myofibrillar myopathies, I am more than my DNA.