Syndrome Name (click to visit test web page)
|
Gene(s) Tested
|
| Achondroplasia
|
FGFR3* |
| Adrenoleukodystrophy
(X-Linked) |
ABCD1 |
| Albright
Hereditary Osteodystrophy |
GNAS |
| Aneurysm
Osteoarthritis Syndrome - See Loeys-Dietz Syndrome
Type 1C |
| Antley
Bixler-like Syndrome |
FGFR2* |
| Apert Syndrome |
FGFR2* |
| Aplastic
Anemia |
TERT; TR |
| Ataxia
Telangiectasia |
ATM |
| Autism - See Macrocephaly/Autism
Syndrome |
| Bannayan-Riley-Ruvalcaba
Syndrome (BRRS) |
PTEN |
| Becker Muscular
Dystrophy - See Duchenne Muscular
Dystrophy |
| Benign
Hereditary Chorea |
NKX2-1 |
| Beta Globin Structural Variants |
HBB |
Beta
Thalassemia or
Beta Globin 619 bp deletion (target) |
HBB |
| Brain-Lung-Thyroid
Syndrome (see Choreoathetosis, Hypothyroidism,
Neonatal Respiratory Distress ) |
| Campomelic
Dysplasia |
SOX9 |
| Choreoathetosis, Hypothyroidism, Neonatal Respiratory Distress
(Brain-Lung-Thyroid Syndrome) |
NKX2-1 |
|
Craniofrontonasal
Syndrome |
EFNB1 |
| Coronal Synostosis |
FGFR2; FGFR3* |
| Cowden
Syndrome |
PTEN |
| Crouzon Syndrome |
FGFR2; FGFR3* |
| Crouzon Syndrome with
Acanthosis Nigricans
|
FGFR3* |
Cystic Fibrosis
(Classic and Non-Classic)
CFTR
Intron 8 T and TG repeat lengths
CF Linkage
Preimplantation Genetic Diagnosis (PGD)
Non-Classic Cystic Fibrosis-like phenotype
|
CFTR
SCNN1B
|
Duchenne Muscular
Dystrophy
Linkage
Analysis |
DMD |
| Dyskeratosis
Congenita (autosomal dominant) |
TERT; TR |
| FGFR-Related
Craniosynostosis - Click here for a Summary Table |
| Huntington
Disease |
HTT |
| Huntington
Disease-Like 2 (HDL2) |
JPH3 |
| Hyperalphalipoproteinemia (High HDL
cholesterol) |
SCARB1* |
| Hypochondroplasia
|
FGFR3* |
| Idiopathic
Pulmonary Fibrosis
|
TERT; TR |
| Infantile Refsum
Disease - see Zellweger Spectrum Disorders |
| Jackson-Weiss Syndrome |
FGFR2; FGFR3* |
| Liddle
Syndrome |
SCNN1B; SCNN1G |
| Loeys-Dietz
Aneurysm Syndrome |
TGFBR1; TGFBR2* |
Loeys-Dietz
Syndrome Type 1C
(Aneurysm Osteoarthritis Syndrome) |
SMAD3 |
| Marfan Syndrome, Type 2 |
TGFBR2* |
| Macrocephaly/Autism
Syndrome |
PTEN |
| Neonatal
Adrenoleukodystrophy - see Zellweger Spectrum Disorders |
| Non-Classic Cystic Fibrosis-like phenotype |
SCNN1B |
| Oculodentodigital
Dysplasia (ODDD) |
GJA1 |
| Pfeiffer Syndrome |
FGFR1; FGFR2; FGFR3* |
| Progesterone Deficient Female
Infertility |
SCARB1* |
| Proteus
Syndrome and Proteus-Like Syndrome |
PTEN |
|
Pseudohypoaldosteronism, Type 1, Autosomal Dominant |
NR3C2 |
| Pseudohypoaldosteronism, Type
1, Autosomal Recessive |
SCNN1A; SCNN1B;
SCNN1G |
| Pseudohypoparathyroidism, Type 1A (PHP1A),
Pseudopseudohypoparathyroidism (PPHP) |
GNAS |
|
Pseudohypoparathyroidism Type 1b |
GNAS |
| Rhizomelic
Chondrodysplasia Punctata, Type I |
PEX7* |
| Saethre-Chotzen Syndrome |
TWIST; FGFR2; FGFR3* |
| Severe
Achondroplasia, Developmental
Delay, Acanthosis Nigricans (SADDAN)
|
FGFR3* |
| Sickle Cell Anemia |
HBB* |
| Surfactant
Deficiency, ABCA3-related |
ABCA3 |
| Surfactant
Protein B Deficiency |
SFTPB |
| Surfactant
Protein C Deficiency |
SFTPC |
| Thanatophoric Dysplasia, Types I
and II
|
FGFR3* |
| Treacher Collins
Syndrome |
TCOF1
POLR1C
POLR1D |
| von Hippel
Lindau Syndrome |
VHL |
| Zellweger Spectrum
Disorders |
PEX1; PEX2;
PEX6; PEX10; PEX12; PEX26* |
