CONGENITAL DISORDERS
| CMS Panel |
|---|
| Congenital Myasthenic Syndrome (CMS) Panel |
| 9 GENES: CHAT, CHRNE, COLQ, RAPSN, CHRNA1, CHRNB1, MUSK, CHRND, DOK7 |
| CDG Panel 1 |
|---|
| Congenital Disorders of Glycosylation (CDG), Sequential Panel |
| 4 GENES: PMM2, ALG6, MPI, SRD5A3 |
| DG Panel |
|---|
| Dystroglycanopathy Sequential Panel |
| 7 GENES: DAG1, FKRP, FKTN, POMT1, POMT2, POMGNT1, LARGE |
| CDG Panel 2 |
|---|
| Congenital Disorders of Glycosylation (CDG), Sequential Panel |
| 9 GENES: RFT1, ALG3, ALG12, ALG8, ALG1/HMT-1, MAGT1, MGAT2, ALG2, ALG9 |
| CGL Panel |
|---|
| Congenital Generalized Lipodystrophy Sequential Panel |
| 2 GENES: GPAT2, BSCL20 |
| HPE Panel |
|---|
| Holoprosencephaly (HPE), Autosomal Dominant, Nonsyndromic, Sequential Testing |
| 6 GENES: SHH, ZIC2, SIX3, TGIF1, PTCH1, GLI |
| CDG Panel 3 |
|---|
| Congenital Disorders of Glycosylation (CDG), Sequential Panel |
| 13 GENES: DOLK/DK1, DPM3, ALG11, MOGS/GCS1, SLC35C1, B4GALT1, SLC35A1, COG1, COG4, COG5, COG6, COG7, COG8 |
| Distal Arth. Panel |
|---|
| Distal Arthrogryposis Syndrome Sequential Panel |
| 4 GENES: MYH3, TPM2, TNNI2, TNNT3 |
| MMA Panel |
|---|
| Methylmalonic Acidemia IMMA) Sequential Panel |
| 5 GENES: MMAA, MMAB, MUT, MMACHC, MCEE |
| MED Panel |
|---|
| Multiple Epiphyseal Dysplasia (MED) Sequential Panel |
| 6 GENES: COMP, MATN3, SLC26A2,COL9A1, COL9A2, COL9A3 |
| SCN Panel |
|---|
| Severe Congenital Neutropenia (SCN) Sequential Panel (ELANE, HAX1, G6PC3, GFI1, WAS) |
| 5 GENES: ELANE, HAX1, G6PC3, GFI1, WAS |
| SCDO Panel |
|---|
| Spondylocostal Dysostosis (SCDO) Sequential Panel |
| 4 GENES: DLL3, MESP2, LFNG, HES7 |