ORDERMETHOD KEY
- Sequencing with CNV
PGxome - Sequencing with CNV
PG-Select - CNV via aCGH
- Sanger Sequencing
- MLPA
- Repeat Expansion
- Other
Search Results
Test Descriptions Found: 10
Searched: all tests
| Panel(s) Available | Method | Price | ||
|---|---|---|---|---|
| 3-Methylcrotonyl-CoA Carboxylase Deficiency Panel |
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| Single Gene Test(s) Available | Method | Price | ||||
|---|---|---|---|---|---|---|
| 2q23.1 Microdeletion Syndrome and Autism Spectrum Disorder via the MBD5 Gene |
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| 3-Hydroxy-3-MethylGlutaryl-CoA Lyase Deficiency via the HMGCL Gene |
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| 3-M Syndrome via the CCDC8 Gene |
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| 3-M Syndrome via the CUL7 Gene |
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| 3-Methylcrotonyl-CoA Carboxylase Deficiency via the MCCC1 Gene |
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| 3-Methylcrotonyl-CoA Carboxylase Deficiency via the MCCC2 Gene |
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| 3-Methylglutaconic Aciduria Type I via the AUH Gene |
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| 46,XX Disorder of Sex Development (DSD) via the WNT4 Gene |
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| 6-Pyruvoyltetrahydropterin Synthase (PTPS) Deficiency via the PTS Gene |
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METHOD KEY
- Sequencing with CNV
PGxome - Sequencing with CNV
PG-Select - CNV via aCGH
- Sanger Sequencing
- MLPA
- Repeat Expansion
- Other