Tests by disease

Allan-Herndon-Dudley syndrome
Angelman syndrome
Atypical Rett syndrome
Autism

Bernard-Soulier syndrome
Bilateral frontoparietal polymicrogyria (BFPP)
Breast Cancer

Charcot-Marie-Tooth, type 2B1
CHARGE Syndrome
CHILD Syndrome
Chondrodysplasia punctata, X-linked dominant
Chondrodysplasia punctata, X-linked recessive
Conradi-Hünermann syndrome
Cornelia de Lange Syndrome (CdLS)
Cri-du-chat syndrome

Dilated cardiomyopathy (DCM)
DiGeorge syndrome

Emery-Dreifuss muscular dystrophy (EDMD)
Emery-Dreifuss muscular dystrophy, autosomal recessive (EDMD3)

Familial hyperinsulinism
Familial partial lipodystrophy (FLPD), Dunnigan type

Gilbert Syndrome

Hallervorden-Spatz Syndrome
Happle syndrome
Hearing Loss
Hutchinson-Gilford progeria
Hyperinsulinemia of infancy

Infantile neuroaxonal dystrophy
Infantile spasms
Isolated congenital heart defects

Limb Girdle muscular dystrophy (LGMD1B)
Lissencephaly

Mandibuloacral dysplasia (MAD)
MCT8-Specific thyroid hormone cell transporter (THCT) deficiency
MCT8 deficiency
Menkes
Mental retardation, X-linked
Myotubular myopathy, X-linked

Non-syndromic congenital heart disease

Occipital Horn Syndrome

Permanent neonatal diabetes
PKAN
Polymicrogyria, bilateral frontoparietal (BFPP)
Prader-Willi Syndrome

Rett syndrome
Rubinstein-Taybi syndrome
Russell-Silver syndrome

Sotos Syndrome

Thyroid hormone cell transport defect
Transient neonatal diabetes

UPD14

West syndrome
Wilson disease
Williams syndrome
Wolf-Hirschhorn syndrome

X-linked dominant chondrodysplasia punctata (CDPX2)
X-linked recessive chondrodysplasia punctata (CDPX1)
X-linked Lissencephaly
X-linked Lissencephaly with Ambiguous Genitalia (XLAG)
X-linked Mental Retardation
X-linked Mental Retardation with high serum T3
X-linked Myotubular Myopathy