Cancer
Cardiomyopathy
Cystic Fibrosis
Fabry Disease
Familial Thoracic Aortic Aneurysms and Aortic Dissections (TAAD)
Hearing Loss
Marfan and Loeys-Dietz Syndromes
Noonan Spectrum Disorders

• Cardio-Facio-Cutaneous (CFC) Syndrome
• Costello Syndrome
• LEOPARD Syndrome
• Noonan Syndrome

Transthyretin Amyloidosis
Warfarin Metabolism Panel

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CANCER GENE TESTS

Germline Cancers

Familial Adenomatous Polyposis (FAP) and FAP-Like Syndromes
• APC Gene Sequencing Test
• APC Deletion/Duplication Analysis

Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and Related Syndromes
• MLH1/MSH2/MSH6 Gene Sequencing Tests
• MLH1/MSH2 Deletion/Duplication Analysis

Li-Fraumeni Syndrome
• TP53 Gene Sequencing Test

Von Hippel-Lindau Syndrome
• 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

Cancer Gene Tests (for researchers only)
• BRAF
• ERBB2
• KRAS2

CARDIOMYOPATHY GENE TESTS

Dilated Cardiomyopathy (DCM)
• DCM Panel A (MYH7, MYBPC3, TNNT2, TNNI3, and TPMI)
• DCM Panel B (LMNA, ACTC, PLN, LDB3 and TAZ)

Hypertrophic Cardiomyopathy (HCM)
• HCM CardioChip (MYH7, MYBPC3, TNNT2, TNNI3, TPMI, ACTC, MYL2, MYL3, LAMP2, PRKAG2, and GLA)

Unexplained Cardiac Hypertrophy (Danon disease, Glycogen storage cardiomyopathy)
• LAMP2 and PRKAG2 Gene Panel
• GLA Gene Test

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C)
• 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                 

Congenital and Early-Onset Hearing Loss
• Connexin 26 (GJB2) Gene Test
• Connexin 30 (ΔGJB6-D13S1830) Deletion Test
• Mitochondrial Gene Panel (MTRNR1 (12S rRNA) and MTTS1 (tRNAser^(UCN))
• MYO7A Gene Test (for DFNB2)
• OTOF Gene Test (for DFNB9/Auditory Neuropathy/Dys-Synchrony)

Hearing Loss with Enlarged Vestibular Aqueducts or Mondini Dysplasia (DFNB4)
• SLC26A4 (PDS) Gene Test

Aminoglycoside-Induced or Maternally-Inherited Hearing Loss
• Mitochondrial Gene Panel (MTRNR1 (12S rRNA) and MTTS1 (tRNAser^(UCN))

Dominant Hearing Loss
• COCH Gene Test (DFNA9) - onset 15-65 years with vestibular problems
• Connexin 26 (GJB2) Gene Test - onset 0-20 years
• MYO7A Gene Test (for DFNA11) - onset 10-60 years and nonsyndromic

X-Linked Nonsyndromic Hearing Loss
• POU3F4 Gene Test

Pendred Syndrome (SNHL, enlarged vestibular aqueducts or Mondini dysplasia, and thyroid abnormalities)
• SLC26A4 (PDS) Gene Test

Usher Syndrome Types 1, 2 & 3 (SNHL and retinitis pigmentosa)
• MYO7A Gene Test (for Usher Type 1)
• PCDH15 Gene Test for the R245X Ashkenazi Jewish founder mutation (for Usher Type 1)
• USH2A Gene Test (for Usher Type 2)
• CLRN1 Gene Test (for Usher Type 3)

Vohwinkel Syndrome (SNHL and skin defects)
• Connexin 26 (GJB2) Gene Test

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