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Tests and Panels

α-Actin (Skeletal Muscle Form)-Related Myopathy via the ACTA1 Gene

Test Code

Method

Price

358

Sanger Sequencing

$610

8813

Sequencing with CNV PGxome

$990
β-Ketothiolase Deficiency via the ACAT1 Gene

Test Code

Method

Price

2181

Sanger Sequencing

$970

9499

Sequencing with CNV PGxome

$990
β-Mannosidase Deficiency via the MANBA Gene

Test Code

Method

Price

4351

Sequencing with CNV PGxome

$990

3781

Sanger Sequencing

$1250
2q23.1 Microdeletion Syndrome and Autism Spectrum Disorder via the MBD5 Gene

Test Code

Method

Price

4183

Sequencing with CNV PG-Select

$990
3-Hydroxy-3-MethylGlutaryl-CoA Lyase Deficiency via the HMGCL Gene

Test Code

Method

Price

240

Sanger Sequencing

$680

9653

Sequencing with CNV PGxome

$990
3-Hydroxyacyl-CoA Dehydrogenase Deficiency via the HADH Gene

Test Code

Method

Price

6911

Sequencing with CNV PG-Select

$990
3-M Syndrome via the CCDC8 Gene

Test Code

Method

Price

2882

Sanger Sequencing

$580

8823

Sequencing with CNV PGxome

$990
3-M Syndrome via the CUL7 Gene

Test Code

Method

Price

11221

Sequencing with CNV PGxome

$990

624

Sanger Sequencing

$1320
3-Methylcrotonyl-CoA Carboxylase Deficiency Panel

Test Code

Method

Price

10069

Sequencing with CNV PGxome

$990
3-Methylcrotonyl-CoA Carboxylase Deficiency via the MCCC1 Gene

Test Code

Method

Price

322

Sanger Sequencing

$990

8113

Sequencing with CNV PGxome

$990
3-Methylcrotonyl-CoA Carboxylase Deficiency via the MCCC2 Gene

Test Code

Method

Price

321

Sanger Sequencing

$910

11839

Sequencing with CNV PGxome

$990
3-Methylglutaconic Aciduria Type I via the AUH Gene

Test Code

Method

Price

323

Sanger Sequencing

$710

11827

Sequencing with CNV PGxome

$990
46,XX Differences of Sex Development (DSD) via the WNT4 Gene

Test Code

Method

Price

904

Sanger Sequencing

$610

10007

Sequencing with CNV PGxome

$990
46,XY Difference of Sex Development (DSD) via the HSD17B3 Gene

Test Code

Method

Price

7709

Sequencing with CNV PG-Select

$990
6-Pyruvoyltetrahydropterin Synthase (PTPS) Deficiency via the PTS Gene

Test Code

Method

Price

1868

Sanger Sequencing

$650

11889

Sequencing with CNV PGxome

$990

Tests and Panels

α-Actin (Skeletal Muscle Form)-Related Myopathy via the ACTA1 Gene

β-Ketothiolase Deficiency via the ACAT1 Gene

β-Mannosidase Deficiency via the MANBA Gene

2q23.1 Microdeletion Syndrome and Autism Spectrum Disorder via the MBD5 Gene

3-Hydroxy-3-MethylGlutaryl-CoA Lyase Deficiency via the HMGCL Gene

3-Hydroxyacyl-CoA Dehydrogenase Deficiency via the HADH Gene

3-M Syndrome via the CCDC8 Gene

3-M Syndrome via the CUL7 Gene

3-Methylcrotonyl-CoA Carboxylase Deficiency Panel

3-Methylcrotonyl-CoA Carboxylase Deficiency via the MCCC1 Gene

3-Methylcrotonyl-CoA Carboxylase Deficiency via the MCCC2 Gene

3-Methylglutaconic Aciduria Type I via the AUH Gene

46,XX Differences of Sex Development (DSD) via the WNT4 Gene

46,XY Difference of Sex Development (DSD) via the HSD17B3 Gene

6-Pyruvoyltetrahydropterin Synthase (PTPS) Deficiency via the PTS Gene