Genetic Tests

CANCER GENE TESTS

Germline Cancers

• APC Gene Sequencing Test
• APC Deletion/Duplication Analysis
• MLH1/MSH2/MSH6 Gene Sequencing Tests
• MLH1/MSH2 Deletion/Duplication Analysis
• TP53 Gene Sequencing Test
• VHL Gene Sequencing Test
• VHL Deletion/Duplication Analysis

Somatic Cancers

Non-Small Cell Lung Cancer (NSCLC) Drug Responsiveness (gefitinib (Iressa®), erlotinib (Tarceva®), tyrosine kinase inhibitors)

• EGFR (Epidermal growth factor receptor) Kinase Domain Sequencing Test

• BRAF
• ERBB2
• KRAS2

CARDIOMYOPATHY GENE TESTS

• DCM CardioChip (MYH7, MYBPC3, TNNT2, TNNI3, TPM1, LMNA , ACTC, PLN , LDB3, TAZ, ABCC9, ACTN2, CSRP3, CTF1, DES, EMD, SGCD, TCAP, and VCL)
• HCM CardioChip (MYH7, MYBPC3, TNNT2, TNNI3, TPMI, ACTC, MYL2, MYL3, LAMP2, PRKAG2, and GLA)
• LAMP2 and PRKAG2 Gene Panel
• GLA Gene Test
• ARVD/C Panel (DSP, DSG2, DSC2, PKP2, TMEM43)

Cystic Fibrosis

• CFTR Full Gene Sequencing Test

Fabry Disease

• GLA Gene Test

Familial Thoracic Aortic Aneurysms and Aortic Dissections (TAAD)

• ACTA2 Gene Test
• TGFβR2 Gene Test
• TGFβR1 Gene Test
• FBN1 Gene Test

HEARING LOSS GENE TESTS

Marfan and Loeys-Dietz Syndromes

• FBN1 Gene Test
• This gene test may also be appropriate for other fibrillinopathies such as MASS syndrome.
• TGFβR1 Gene Test
• TGFβR2 Gene Test

Noonan Spectrum Disorders
(Cardio-Facio-Cutaneous (CFC) Syndrome, Costello Syndrome, LEOPARD Syndrome, Noonan Syndrome)

• Noonan Spectrum Chip (PTPN11, SOS1, RAF1, KRAS, BRAF, MEK1, MEK2 + HRAS)

Transthyretin Amyloidosis

• TTR Gene Test

Warfarin Metabolism Panel

• VKOR1 and CYP2C9 Genotyping