Metabolic disorders with dysmorphism
Genes Tested 44 Genes
- AGL
- ASPA
- ATP7A
- CBS
- DHCR7
- FUCA1
- G6PC1
- GAA
- GALNS
- GBA1
- GBE1
- GLB1
- GNPTAB
- GNPTG
- GNS
- GUSB
- HEXA
- HEXB
- HGSNAT
- HPRT1
- IDS
- IDUA
- INSR
- MAN2B1
- MANBA
- MCOLN1
- NAGLU
- NPC1
- PEX1
- PEX10
- PEX12
- PEX2
- PEX26
- PEX6
- PHKA1
- PHKA2
- PHKB
- PHKG2
- PYGL
- PYGM
- SGSH
- SLC37A4
- SMPD1
- SUMF1
For the following gene, a dosage analysis is also included.
Test Information
Test Code |
273.00 |
Genes Tested |
44 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 |