NEUROLOGY PANELS
| CMT1 Panel |
|---|
| Charcot-Marie-Tooth Type 1 (CMT1) Sequential Panel |
| 5 GENES: PMP22, MPZ, LITAF, EGR2, NEFL |
| ALS PANEL |
|---|
| Amyotrophic Laterial Sclerosis (ALS) Sequencing Panel |
| 5 GENES: SOD1, FUS/TLS, TARDBP, ANG, VAPB |
| CMTx Panel |
|---|
| Charcot-Marie-Tooth Other, Sequential Panel |
| 7 GENES: GARS, HSPB1, HSPB8, LMNA, DNM2, YARS, MPZ |
| Bethlem Panel |
|---|
| Bethlem Myopathy |
| 3 GENES: COL6A1, COL6A2, COL6A3 |
| CMT2 Panel |
|---|
| Charcot-Marie-Tooth Type 2 (CMT2) Sequential Panel |
| 15 GENES: MFN2, GDAP1, NEFL, GARS, LMNA, YARS, KIF1B, RAB7A, MED25, TRPV4, HSPB1, MPZ, HSPB8, AARS, DNM2 |
| CMTx Panel |
|---|
| Charcot-Marie-Tooth Other, Sequential Panel |
| 7 GENES: GARS, HSPB1, HSPB8, LMNA, DNM2, YARS, MPZ |
| CCM Panel |
|---|
| Cerebral Cavernous Malformations (CCM) Sequential Panel |
| 3 GENES: KRIT1, CCM2/MGC4607, CCM3/PDCD10 |
| CMT4 Panel |
|---|
| Charcot-Marie-Tooth Type 4 (CMT4), recessive, Sequential Panel |
| 5 GENES: GDAP1, MTMR2, SBF2, SH3TC2, NDRG1, EGR2, PRX, FGD4, FIG4 |
| Distal Myopathy Panel |
|---|
| Distal Myopathy Sequential Panel |
| 12 GENES: DYSF, GNE, TTN, CAV3. MYH7, MATR3, MYOT, NEB, LDB3, ANO5, KLHL9, DNM2 |
| LGMD Panel |
|---|
| Limb Girdle Muscular Dystrophy Autosomal Recessive Panel |
| 11 GENES: CAPN3, DYSF, SGCG, SGCA, SGCB, SGCE, TCAP, TRIM32, FKRP, TTN, TMEM16E/ANO5 |
| Stuttering Panel |
|---|
| Stuttering Sequential Panel |
| 3 GENES: GNPTAB, GNPTG, NAGPA |
| Joubert Panel |
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| Joubert Syndrome Sequential Panel |
| 8 GENES: AHI1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, CXORF5, TMEM67 |
| Usher 1 Panel |
|---|
| Usher Syndrome type 1 Sequential Sequencing |
| 4 GENES: MYO7A, CDH23, PCDH15, USH1C |
| MLS Panel |
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| Metachromatic Leukodystrophy Sequential Panel (ARSA, PSAP) |
| 2 GENES: ARSA, PSAP |
| Usher 2 Panel |
|---|
| Usher Syndrome type 2 Sequential Sequencing |
| 3 GENES: USH2A, GPR98, DFNB31 |