Search for Tests by Syndrome Name

Syndrome Name (click to visit test web page)
Gene(s) Tested
Achondroplasia FGFR3*
Adrenoleukodystrophy (X-Linked) ABCD1
Albright Hereditary Osteodystrophy GNAS
Antley Bixler-like Syndrome FGFR2*
Apert Syndrome FGFR2*
Aplastic Anemia TERT;  TR
Arrythmogenic Right Ventricular Dysplasia (ARVD) PKP2
Ataxia Telangiectasia ATM
Autism - See Macrocephaly/Autism Syndrome
Bannayan-Riley-Ruvalcaba Syndrome (BRRS) PTEN
Becker Muscular Dystrophy -   See Duchenne Muscular Dystrophy
Beta Globin Structural Variants HBB
Beta Thalassemia or    
     Beta Globin 619 bp deletion (target)		 HBB
Campomelic Dysplasia SOX9
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
     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
Hypochondroplasia FGFR3*
Idiopathic Pulmonary Fibrosis TERT;  TR
Jackson-Weiss Syndrome FGFR2;  FGFR3*
Liddle Syndrome SCNN1B;  SCNN1G
Loeys-Dietz Aneurysm Syndrome TGFBR1;  TGFBR2*
Marfan Syndrome, Type 2 TGFBR2*
Macrocephaly/Autism Syndrome PTEN
Non-Classic Cystic Fibrosis-like phenotype SCNN1B
Oculodentodigital Dysplasia (ODDD) GJA1
Pfeiffer Syndrome FGFR1;  FGFR2;  FGFR3*
Pseudohypoaldosteronsim, Type 1A SCNN1A;  SCNN1B;  SCNN1G
Pseudohypoparathyroidism, Type 1A (PHP,1A) or
Pseudopseudohypoparathyroidism (PPHP) 		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
Surfactant Protein B Deficiency SFTPB
Surfactant Protein C Deficiency SFTPC
Thanatophoric Dysplasia, Types I and II FGFR3*
Transthyretin Amyloidosis TTR
Treacher Collins Syndrome TCOF1
von Hippel Lindau Syndrome VHL
Zellweger Syndrome Spectrum PEX1;  PEX2;  PEX10;  PEX12;  PEX26*

* Select exons may be sequenced - see individual test page for details

 

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