|
Gene
Name |
Associated
Syndrome(s) (click to visit test web page) |
| ABCA3 |
ABCA3-related
Surfactant
Deficiency |
| ABCD1 |
X-Linked
Adrenoleukodystrophy |
| ATM |
Ataxia
Telangiectasia |
| CFTR |
Cystic Fibrosis
(Classic and Non-Classic)
CFTR
Intron 8 T and TG repeat lengths
CF Linkage
Preimplantation Genetic Diagnosis (PGD) |
| DMD |
Duchenne Muscular Dystrophy /
Becker Muscular Dystrophy:
Linkage
Analysis |
| EFNB1 |
Craniofrontonasal
Syndrome |
| FGFR1 |
Pfeiffer
Syndrome |
| FGFR2 |
Antley
Bixler-like Syndrome
Apert Syndrome
Coronal Synostosis
Crouzon Syndrome
Jackson-Weiss Syndrome
Pfeiffer Syndrome
Saethre-Chotzen Syndrome |
Click here for a Summary Table
of FGFR-related test panels for craniosynostosis |
| FGFR3 |
Skeletal Dysplasias
Achondroplasia
Hypochondroplasia
Severe Achondroplasia, Developmental
Delay, Acanthosis Nigricans (SADDAN)
Thanatophoric Dysplasia, Types I
and II
Craniosynostosis Syndromes
Crouzon
Syndrome
Crouzon Syndrome with
Acanthosis Nigricans
Coronal Synostosis
Jackson-Weiss Syndrome
Pfeiffer Syndrome
Saethre-Chotzen Syndrome
|
| GJA1 |
Oculodentodigital
Dysplasia (ODDD) |
| GNAS |
Pseudohypoparathyroidism Type 1a (PHP 1a),
Pseudopseudohypoparathyroidism (PPHP), Albright Hereditary
Osteodystrophy (AHO)
Pseudohypoparathyroidism Type 1b (PHP1b) |
| HBB (ß-globin) |
Beta
Thalassemia
Beta Globin Structural Variants
Beta Globin 619 bp deletion
Sickle Cell Anemia |
| HTT |
Huntington Disease |
| JPH3 |
Huntington Disease-Like 2 (HDL2) |
| NKX2-1 |
Benign Hereditary Chorea
Choreoathetosis, Hypothyroidism, Neonatal
Respiratory Distress (Brain-Lung-Thyroid Syndrome) |
| NR3C2 |
Pseudohypoaldosteronism, Type 1, Autosomal
Dominant |
| PEX7 |
Rhizomelic
Chondrodysplasia Punctata, Type I |
| PEX1, PEX2, PEX6, PEX10, PEX12,
PEX26 |
Zellweger Spectrum
Disorders |
| POLR1C |
Treacher Collins
Syndrome |
| POLR1D |
Treacher Collins
Syndrome |
| PTEN |
Bannayan-Riley-Ruvalcaba
Syndrome (BRRS)
Cowden Syndrome
Macrocephaly/Autism Syndrome
Proteus Syndrome and
Proteus-Like Syndrome |
| SCARB1 |
Hyperalphalipoproteinemia (elevated HDL-C)
Progesterone Deficient Female
Infertility |
| SCNN1A |
Pseudohypoaldosteronism,
Type 1, autosomal recessive |
| SCNN1B |
Liddle
Syndrome
Non-Classic Cystic Fibrosis-like phenotype
Pseudohypoaldosteronism Type 1, autosomal
recessive |
| SCNN1G |
Liddle
Syndrome
Pseudohypoaldosteronism, Type 1, autosomal
recessive |
| SFTPB |
Surfactant
Protein B Deficiency |
| SFTPC |
Surfactant
Protein C Deficiency |
| SMAD3 |
Loeys-Dietz
Syndrome Type 1C |
| SOX9 |
Campomelic
Dysplasia |
| TCOF1 |
Treacher Collins
Syndrome |
| TERT |
Aplastic
Anemia
Dyskeratosis Congenita (Autosomal Dominant)
Idiopathic Pulmonary Fibrosis |
| TGFBR1 |
Loeys-Dietz
Aneurysm Syndrome |
| TGFBR2 |
Loeys-Dietz
Aneurysm Syndrome
Marfan Syndrome, Type 2 |
| TR (TERC) |
Aplastic
Anemia
Dyskeratosis Congenita (Autosomal Dominant)
Idiopathic Pulmonary Fibrosis |
| TWIST |
Saethre-Chotzen
Syndrome |
| VHL |
von Hippel
Lindau Syndrome |
