Testing Services

138 gene germline cancer panel covering all 11 organ systems.

Our comprehensive panel identifies pathogenic mutations associated with cardiomyopathies and arrhythmias. 

• Comprehensive 468 gene panel or you can order individual, smaller panel.
• Comprehensive Immunology Panel

• Gene Count: 468
• Agammaglobulinemia
  Gene Count: 10
   

• BLNK, BTK, CD79A, CD79B, IGHM, IGLL1, LRRC8A, PIK3R1, SH2D1A, TCF3

• B-Negative Severe Combined Immunodeficiency
  Gene Count: 13
   

• ADA, AK2, CORO1A, DCLRE1C, LIG4, NBN, NHEJ1, PGM3, PRKDC, RAC2, RAG1, RAG2, TTC7A

• B-Positive Severe Combined Immunodeficiency
  Gene Count: 26
   

• ATM, CD247, CD3D, CD3E, CD8A, CHD7, CIITA, CORO1A, DOCK8, FOXN1, IL2RA, IL2RG, IL7R, JAK3, ORAI1, PNP, PTPRC, RFX5, RFXANK, RFXAP, RMRP, SP110, STAT5B, STIM1, TBX1, ZAP70

• Chronic Granulomatous Disease
  Gene Count: 7
   

• CYBA, CYBB, G6PD, NCF1, NCF2, NCF4, NOD2

• Comprehensive Primary Immunodeficiency
  Gene Count: 471
   

• ACD, ACP5, ACTB, ADA, ADA2, ADAM17, ADAMTS13, ADAR, AICDA, AIRE, AK2, AP1S3, AP3B1, AP3D1, APOL1, ARMC4, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S3, BLOC1S6, BRCA2, BRIP1, BTK, and more…

• Familial Hemophagocytic Lymphohistiocytosis
  Gene Count: 7
   

• PRF1, RAB27A, SH2D1A, STX11, STXBP2, UNC13D, XIAP

• Hyper-IgE Syndrome
  Gene Count: 5
   

• DOCK8, PGM3, SPINK5, STAT3, TYK2

• Inflammatory Bowel Disease
  Gene Count: 122
   

• ADA, ADAM17, AICDA, AIRE, ANKZF1, ARPC1B, BACH2, BTK, CARD8, CARMIL2, CASP8, CD19, CD3G, CD40, CD40LG, CD55, CD81, CHD7, CIITA, COL7A1, CR2, CTLA4, CYBA, CYBB, CYBC1, DCLRE1C, DKC1, DOCK8, DUOX2, FCHO1, and more…

• Neutropenia
  Gene Count: 21
   

• AP3B1, CSF3R, CXCR4, ELANE, G6PC3, GATA1, GATA2, GFI1, HAX1, LAMTOR2, LYST, RAB27A, RAC2, SBDS, SLC37A4, TAZ, USB1, VPS13B, VPS45, WAS, WIPF1

• Periodic Fever/Autoinflammatory Disorders
  Gene Count: 56
   

• ACP5, ADA2, ADAM17, ADAR, AP1S3, ASAH1, CARD14, COPA, DDX58, ELANE, HAX1, HTR1A, IFIH1, IL10RA, IL10RB, IL1RN, IL36RN, ISG15, LPIN2, MEFV, MVK, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OTULIN, PIK3CD, PIK3R1, PLCG2, and more…

• Severe Combined Immunodeficiency
  Gene Count: 91
   

• ACD, ADA, AK2, ATM, B2M, BCL11B, BLM, CARD11, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, CTC1, CTPS1, DCLRE1C, DKC1, DNMT3B, DOCK2, DOCK8, EPG5, FOXN1, ICOS, IFNGR1, and more…

179 gene comprehensive hearing loss

595 gene comprehensive endocrinology panel

Comprehensive pulmonary panel

Comprehensive panel associated with cardiomyopathies, arrhythmias and pulmonary disorders.

153 gene comprehensive liver disorder panel

185 gene comprehensive lung panel

402 gene comprehensive panel

504 gene comprehensive gene panel

406 gene comprehensive epilepsy panel