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Searched: Galloway Mowat Syndrome (GAMOS) via the GON7��Gene

Search Results

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 via the PIGA Gene

Test Code

Method

Price

5761

Sanger Sequencing

$610
Early Infantile Epileptic Encephalopathy and Rett-like Syndrome via the CDKL5 Gene

Test Code

Method

Price

4121

Sequencing with CNV PG-Select

$640
Leigh Syndrome Associated with Isolated Complex I Deficiency via the NDUFA12 Gene

Test Code

Method

Price

3309

Sanger Sequencing

$610

8761

Sequencing with CNV PGxome

$890
Generalized Epilepsy with Febrile Seizures Plus and Dravet syndrome via the SCN1B Gene

Test Code

Method

Price

10671

Sequencing with CNV PG-Select

$640
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
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
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
X-linked Nance-Horan Syndrome and Congenital Cataract via the NHS Gene

Test Code

Method

Price

11513

Sequencing with CNV PGxome

$890

1668

Sanger Sequencing

$1100
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
Phosphoglycerate Dehydrogenase Deficiency and Neu-Laxova Syndrome 1 via the PHGDH Gene

Test Code

Method

Price

7911

Sequencing with CNV PG-Select

$640
Macrocephaly, Alopecia, Cutis Laxa and Scoliosis (MACS) Syndrome via the RIN2 Gene

Test Code

Method

Price

8125

Sequencing with CNV PG-Select

$640
Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via the NDUFS1 Gene

Test Code

Method

Price

11511

Sequencing with CNV PGxome

$890

2929

Sanger Sequencing

$1190
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
Tricho-Rhino-Phalangeal Syndrome Types I and III via the TRPS1 Gene

Test Code

Method

Price

814

Sanger Sequencing

$860

8269

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
Symphalangism, Proximal, Multiple Synostoses Syndrome, Stapes Ankylosis with Broad Thumb and Toes, Tarsal-Carpal Coalition Syndrome, and Brachydactyly, Type B2 via the NOG Gene

Test Code

Method

Price

1620

Sanger Sequencing

$440

9219

Sequencing with CNV PGxome

$890
Allan-Herndon-Dudley Syndrome or Monocarboxylate Transporter 8 Deficiency via the SLC16A2 Gene

Test Code

Method

Price

2086

Sanger Sequencing

$680

8515

Sequencing with CNV PGxome

$890
Laron Syndrome/Pituitary Dwarfism II (Growth Hormone Insensitivity) via the GHR Gene

Test Code

Method

Price

9917

Sequencing with CNV PGxome

$890

627

Sanger Sequencing

$840
Deafness-Dystonia-Optic Neuronopathy (Mohr-Tranebjaerg/Jensen) Syndrome via the TIMM8A Gene

Test Code

Method

Price

1467

Sanger Sequencing

$490

9091

Sequencing with CNV PGxome

$890
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and Loeys-Dietz Syndrome via the TGFB3 Gene

Test Code

Method

Price

3983

Sequencing with CNV PG-Select

$640

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Search Results

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 via the PIGA Gene

Early Infantile Epileptic Encephalopathy and Rett-like Syndrome via the CDKL5 Gene

Leigh Syndrome Associated with Isolated Complex I Deficiency via the NDUFA12 Gene

Generalized Epilepsy with Febrile Seizures Plus and Dravet syndrome via the SCN1B Gene

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

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

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

X-linked Nance-Horan Syndrome and Congenital Cataract via the NHS Gene

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

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

Macrocephaly, Alopecia, Cutis Laxa and Scoliosis (MACS) Syndrome via the RIN2 Gene

Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via the NDUFS1 Gene

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

Tricho-Rhino-Phalangeal Syndrome Types I and III via the TRPS1 Gene

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

Symphalangism, Proximal, Multiple Synostoses Syndrome, Stapes Ankylosis with Broad Thumb and Toes, Tarsal-Carpal Coalition Syndrome, and Brachydactyly, Type B2 via the NOG Gene

Allan-Herndon-Dudley Syndrome or Monocarboxylate Transporter 8 Deficiency via the SLC16A2 Gene

Laron Syndrome/Pituitary Dwarfism II (Growth Hormone Insensitivity) via the GHR Gene

Deafness-Dystonia-Optic Neuronopathy (Mohr-Tranebjaerg/Jensen) Syndrome via the TIMM8A Gene

Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and Loeys-Dietz Syndrome via the TGFB3 Gene