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  Chromosomal and Genetic Abnormality Tests

Chromosomal and Genetic Abnormality Tests
Technique: Multiplex Ligation-Dependent Probe Amplification (MLPA®)

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

Combined Genetic Tests

For those disorders caused by common aberrant genes, we offer combined tests, and the packages include -

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

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