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Searched: Alstrom Syndrome via ALMS1 Gene Sequencing with CNV Detection

Search Results

Leigh Syndrome Associated with Mitochondrial Complex I Deficiency via the NDUFS7 Gene

Test Code

Method

Price

3313

Sanger Sequencing

$840

8301

Sequencing with CNV PGxome

$890
Leigh Syndrome Associated with Mitochondrial Complex I Deficiency via the NDUFA9 Gene

Test Code

Method

Price

3307

Sanger Sequencing

$910

8207

Sequencing with CNV PGxome

$890
Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via the NDUFAF2 Gene

Test Code

Method

Price

3310

Sanger Sequencing

$580

10027

Sequencing with CNV PGxome

$890
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) Syndrome via the CTDP1 Gene

Test Code

Method

Price

11217

Sequencing with CNV PGxome

$890

1737

Sanger Sequencing

$1220
Congenital Myasthenic Syndromes and Lethal Multiple Pterygium Syndrome via the CHRNA1 Gene

Test Code

Method

Price

401

Sanger Sequencing

$680

8539

Sequencing with CNV PGxome

$890
Robinow Syndrome and Autosomal Recessive Brachydactyly, Type B1 via the ROR2 Gene

Test Code

Method

Price

8359

Sequencing with CNV PGxome

$890

136

Sanger Sequencing

$810
Hermansky-Pudlak Syndrome Type 9 (HPS9) via the BLOC1S6/PLDN Gene

Test Code

Method

Price

758

Sanger Sequencing

$610

8749

Sequencing with CNV PGxome

$890
Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome via the FOXP3 Gene

Test Code

Method

Price

1838

Sanger Sequencing

$870

8241

Sequencing with CNV PGxome

$890
Chondrodysplasia with Joint Dislocations/Catel–Manzke Syndrome via the BPNT2/IMPAD1 Gene

Test Code

Method

Price

2338

Sanger Sequencing

$750

9945

Sequencing with CNV PGxome

$890
Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive, via the COL9A2 Gene

Test Code

Method

Price

11205

Sequencing with CNV PGxome

$890

817

Sanger Sequencing

$1290
Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive via the COL9A1 Gene

Test Code

Method

Price

11203

Sequencing with CNV PGxome

$890

805

Sanger Sequencing

$1830
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via the COQ2 Gene

Test Code

Method

Price

2039

Sanger Sequencing

$680

8601

Sequencing with CNV PGxome

$890
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via the COQ6 Gene

Test Code

Method

Price

1621

Sanger Sequencing

$840

8317

Sequencing with CNV PGxome

$890
Familial Limb Girdle Myasthenic Syndrome With Tubular Aggregates via the DPAGT1 Gene

Test Code

Method

Price

11259

Sequencing with CNV PGxome

$890

1191

Sanger Sequencing

$750
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1B Gene

Test Code

Method

Price

11649

Sequencing with CNV PGxome

$890

1273

Sanger Sequencing

$870
Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1G Gene

Test Code

Method

Price

11651

Sequencing with CNV PGxome

$890

1274

Sanger Sequencing

$780
Long QT Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia via the CALM3 Gene

Test Code

Method

Price

13365

Sequencing with CNV PGxome

$890
Lesch-Nyhan Syndrome, HPRT-Related Hyperuricemia and Gout via the HPRT1 Gene

Test Code

Method

Price

7129

Sequencing with CNV PG-Select

$640
Hermansky-Pudlak Syndrome via the HPS3 Gene, Exon 1 Deletion

Test Code

Method

Price

759

Targeted Deletion

$250
Phosphoglycerate Dehydrogenase Deficiency and Neu-Laxova Syndrome 1 via the PHGDH Gene

Test Code

Method

Price

7911

Sequencing with CNV PG-Select

$640

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Search Results

Leigh Syndrome Associated with Mitochondrial Complex I Deficiency via the NDUFS7 Gene

Leigh Syndrome Associated with Mitochondrial Complex I Deficiency via the NDUFA9 Gene

Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via the NDUFAF2 Gene

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) Syndrome via the CTDP1 Gene

Congenital Myasthenic Syndromes and Lethal Multiple Pterygium Syndrome via the CHRNA1 Gene

Robinow Syndrome and Autosomal Recessive Brachydactyly, Type B1 via the ROR2 Gene

Hermansky-Pudlak Syndrome Type 9 (HPS9) via the BLOC1S6/PLDN Gene

Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome via the FOXP3 Gene

Chondrodysplasia with Joint Dislocations/Catel–Manzke Syndrome via the BPNT2/IMPAD1 Gene

Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive, via the COL9A2 Gene

Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive via the COL9A1 Gene

Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via the COQ2 Gene

Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via the COQ6 Gene

Familial Limb Girdle Myasthenic Syndrome With Tubular Aggregates via the DPAGT1 Gene

Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1B Gene

Liddle Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1G Gene

Long QT Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia via the CALM3 Gene

Lesch-Nyhan Syndrome, HPRT-Related Hyperuricemia and Gout via the HPRT1 Gene

Hermansky-Pudlak Syndrome via the HPS3 Gene, Exon 1 Deletion

Phosphoglycerate Dehydrogenase Deficiency and Neu-Laxova Syndrome 1 via the PHGDH Gene