METHOD KEY
- Sequencing with CNVPGxome
- Sequencing with CNVPG-Select
- CNV via aCGH
- Sanger Sequencing
- MLPA
- Repeat Expansion
- Other
Alport Syndrome
Branchiootorenal Syndrome
Hearing Loss
Pendred Syndrome
Stickler Syndrome
Townes-Brocks Syndrome
Usher Syndrome
Waardenburg Syndrome
Wolfram Syndrome
METHOD KEY
- Sequencing with CNVPGxome
- Sequencing with CNVPG-Select
- CNV via aCGH
- Sanger Sequencing
- MLPA
- Repeat Expansion
- Other