Testing Information and Specifications

Step-by-Step Sample Submission Guidelines

Click on a test name for specific information & pricing: General Information about Turn-Around-Time: PCR and sequence based tests are usually complete in 4-6 weeks; larger genes (GNAS1, CFTR, ATM, etc) can take significantly longer. Southern blot based tests take 4 to 6 weeks to complete. Please see individual test pages for specific turn-around-time information. The test fees and CPT codes provided on each test page apply to routine testing on blood samples only. Please contact the genetic counselor for information testing other types of samples, including cultured fibroblasts, prenatal samples or frozen tissue, or if you desire targeted testing for a known or familial mutation. Adrenoleukodystrophy, X-lnked - ABCD1 gene (through Kennedy Krieger Institute) Albright Hereditary Osteodysplasia / Pseudohypoparathyroidism IA / Pseudopseudohypoparathyroidism - GNAS1 gene sequencing Arrhythmogenic Right Ventricular Dysplasia (ARVD) - PKP2 gene sequencing Ataxia Telangiectasia - ATM gene sequencing Beta Globin Sickle Cell Anemia by DNA Sequencing Hemoglobin Variants Beta Thalassemia Beta-Thalassemia - sequencing plus 619bp deletion 619 Base Pair Deletion only Craniosynostoses (FGFR and TWIST Related)  Apert Syndrome Antley-Bixler-like Syndrome (FGFR2) Coronal Synostosis Crouzon Syndrome Jackson-Weiss Syndrome Pfeiffer Syndrome Saethre-Chotzen Syndrome Crouzon Syndrome with Acanthosis Nigricans Guide to FGFR-related test panels Cystic Fibrosis and Non-Classic Cystic Fibrosis CFTR gene sequencing CFTR T/TG tract Typing PGD for Cystic Fibrosis Non-Classic CF-Like Phenotype; Beta ENaC related (SCNN1B) Duchenne and Becker Muscular Dystrophy DMD Linkage analysis Deletion testing in Males by PCR Familial Aortic Aneurysm Disorders Loeys-Dietz Aortic Aneurysm Syndrome (TGFBR2 and TGFBR1) Marfan Syndrome, Type 2 (TGFBR2) Familial Hypertension Liddle Syndrome (SCNN1B and SCNN1G) Fragile X Syndrome -FMR1 gene Southern Blot and PCR Liddle Syndrome - Liddle Syndrome (SCNN1B and SCNN1G) Peroxisomal Biogenesis Disorders - Zellweger Syndrome Spectrum (through Kennedy Krieger Institute) - Multiple PEX genes Preimplantation Genetic Diagnosis (PGD) - Cystic Fibrosis Pseudohypoaldosteronism, Type 1A - Sequencing of SCNN1A, SCNN1B and SCNN1G Oculodentodigital Dysplasia (ODDD) - GJA1 gene sequencing Rhizomelic Chondrodysplasia Punctata (through Kennedy Krieger Institute) - PEX7 gene Sickle Cell Anemia - see Beta-globin Skeletal Dysplasias Achondroplasia/ Hypochondroplasi (FGFR3) Achondroplasia/ Thanatophoric Dysplasia (FGFR3) SADDAN (Severe Achondroplasia, Developmental Delay and Acanthosis Nigricans) (FGFR3) Campomelic Dysplasia (SOX9)    Surfactant Protein Deficiencies Surfactant Protein B Deficiency (SFTPB gene sequencing) Surfactant Protein C Deficiency (SFTPC gene sequencing) ABCA3 gene sequencing   Transthyretin Amyloidosis - TTR gene sequencing Treacher Collins Syndrome - TCOF1 gene sequencing von Hippel-Lindau Syndrome - VHL gene sequencing VHL gene Southen Blot

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