METHOD KEY
- Sequencing with CNVPGxome
- Sequencing with CNVPG-Select
- CNV via aCGH
- Sanger Sequencing
- MLPA
- Repeat Expansion
- Other
Autism Spectrum Disorders
BBB Syndrome
Bardet-Biedl Syndrome
Brain Malformations
Coffin-Siris Syndrome
Cornelia de Lange Syndrome
Craniosynostosis
Developmental Delay
Epilepsy
Facial Dysostosis Related Disorders
Floating-Harbor Syndrome
Fragile X Syndrome
Fraser Syndrome
Glycosylphosphatidylinositol Biosynthesis Def
Intellectual Disability
Joubert and Meckel-Gruber Syndromes
Macrocephaly
Opitz G
Prader-Willi Syndrome
Premature Ovarian Failure (POF1)
Rett Syndrome
Rett Syndrome, Angelman Syndrome and Variant Syndromes
Rubinstein-Taybi Syndrome
Smith-Lemli-Opitz Syndrome
Thyroid Hormone Resistance
METHOD KEY
- Sequencing with CNVPGxome
- Sequencing with CNVPG-Select
- CNV via aCGH
- Sanger Sequencing
- MLPA
- Repeat Expansion
- Other