Disease

Gene Responsible

Aneuploidy of X/Y Chromosomes

Chromosomes X and Y

(Risk of) Atherosclerotic Cardiovascular Disease

9q21.3

Autism

15q11.2-13; UBE3A; GABRB3; 16p11.2; SHANK3; 22q13

Colon Cancer

PPARG 3p25.1

Cystic Fibrosis (CF)

CFTR 7q31.2

Diabetes Mellitus (DM) Type 2

PPARG 3p25.1

DiGeorge Syndrome (DGS)

22q11.2

Dihydropyrimidine Dehydrogenase Deficiency (DPYD)

DPYD 1p22

Distal Spinal Muscular Atrophy Type 1 (DSMA1) or SMARD1 or HMN6

IGHMBP2 11q13

Down’s Syndrome (Trisomy 21)

Chromosome 21

Duchenne Muscular Dystrophy (DMD)

DMD, Xp21.2

Edward’s Syndrome (Trisomy 18)

Chromosome 18

Episodic Ataxia Type 2 (EA2)

CACNA1A

Familial Hemiplegic Migraine (FHM)

CACNA1A

Familial Partial Lipodystrophy, Dunnigan Type (FPLD3)

PPARG 3p25.1

Fragile-X Syndrome (FXS)

FMR1, AFF2

Hemophilia A (Factor VIII Deficiency)

F8 Xq28

Hemophilia B (Factor IX Deficiency/Christmas Disease)

F9 Xq27.1

Hereditary Hemochromatosis (HH)

HFE, SLC40A1, TFR2, HFE2, HAMP

Li–Fraumeni Syndrome (LFS)

P53 17p13.1

Lipoprotein Lipase (LPL) Deficiency

LPL 8p21.3

Miller-Dieker Syndrome

17p13.3

Obesity Gene Testing

PPARG 3p25.1

Parkinson’s Disease, Familial

PARK2 6q25.2, SNCA 4q21, Pink1, Park7 1p36

Patau Syndrome (Trisomy 13)

Chromosome 13

Prader-Willi and Angelman Syndromes (PWS/AS)

PWS/AS region (15q11-13), MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, OCA2

Rett Syndrome

MECP2

Sickle Beta Zero Thalassemia (Thalassemia, Beta Zero)

HBB 11p15.5

Smith-Magenis Syndrome

17p11.2

Spinal Muscular Atrophy (SMA)

SMN1, SMN2, 5q13

Spinocerebellar Ataxia Type 6 (SCA6)

CACNA1A

Von Willebrand disease (vWF)

vWF 12p13

William’s Syndrome (Micro deletion 7q11.23)

7q11.23

Wilson's Disease

ATP7B 13q14.3

Disease

Gene Responsible

1. Episodic Ataxia 2
2. Familial Hemiplegic Migraine
3. Spinocerebellar Ataxia Type 6 (SCA6)

CACNA1A

Aneuploidy of Chromosomes-

1. Trisomy 13 (Patau syndrome)
2. Trisomy 18 (Edward’s syndrome)
3. Trisomy 21 (Down’s syndrome)
4. X
5. Y

Chromosomes 13, 18, 21, X and Y

1. Colon Cancer
2. Diabetes Mellitus Type II
3. Familial Partial Lipodystrophy III
4. Obesity

PPARG 3p25.1

1. Miller-Dieker Syndrome
2. PWS/AS Syndrome
3. Rett Syndrome
4. Smith-Magenis Syndrome
5. William’s Syndrome (Micro deletion 7q11.23)

Various