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Searched: Alstrom Syndrome via ALMS1 Gene Sequencing with CNV Detection

Search Results

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

Test Code

Method

Price

759

Targeted Deletion

$250
Macrocephaly, Alopecia, Cutis Laxa and Scoliosis (MACS) Syndrome via the RIN2 Gene

Test Code

Method

Price

8125

Sequencing with CNV PG-Select

$640
Dravet Syndrome and Generalized Epilepsy with Febrile Seizures Plus via the SCN1A Gene

Test Code

Method

Price

3043

Sequencing with CNV PG-Select

$640
Alpha-Thalassemia X-linked Intellectual Disability Syndrome via the ATRX Gene

Test Code

Method

Price

9835

Sequencing with CNV PG-Select

$640
Early Infantile Epileptic Encephalopathy and Rett-like Syndrome via the CDKL5 Gene

Test Code

Method

Price

4121

Sequencing with CNV PG-Select

$640
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 via the PIGA Gene

Test Code

Method

Price

5761

Sanger Sequencing

$610
Congenital Myasthenic Syndromes via the CHRNB1 Gene

Test Code

Method

Price

11173

Sequencing with CNV PGxome

$890

402

Sanger Sequencing

$710
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
Infantile Parkinsonism-Dystonia 1 or Dopamine Transporter Deficiency Syndrome via the SLC6A3 Gene

Test Code

Method

Price

12607

Sequencing with CNV PGxome

$890
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via the COQ8B/ADCK4 Gene

Test Code

Method

Price

1682

Sanger Sequencing

$940

8185

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
SUCLA2 -Related Encephalomyopathic Form of Mitochondrial DNA Depletion Syndrome via the SUCLA2 Gene

Test Code

Method

Price

1251

Sanger Sequencing

$810

9931

Sequencing with CNV PGxome

$890
SUCLG1-Related Encephalomyopathic Form of Mitochondrial DNA Depletion Syndrome via the SUCLG1 Gene

Test Code

Method

Price

11725

Sequencing with CNV PGxome

$890

1249

Sanger Sequencing

$750
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
Steroid-Resistant Nephrotic Syndrome and XX Female Gonadal Dysgenesis via the NUP107 Gene

Test Code

Method

Price

11531

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
Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) via the DDX41 Gene

Test Code

Method

Price

5299

Sequencing with CNV PG-Select

$640
MPV17-Related Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome via the MPV17 Gene

Test Code

Method

Price

7751

Sequencing with CNV PG-Select

$640
DGUOK-Related Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome via the DGUOK Gene

Test Code

Method

Price

15241

Sequencing with CNV PG-Select

$640

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Search Results

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

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

Dravet Syndrome and Generalized Epilepsy with Febrile Seizures Plus via the SCN1A Gene

Alpha-Thalassemia X-linked Intellectual Disability Syndrome via the ATRX Gene

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

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

Congenital Myasthenic Syndromes via the CHRNB1 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

Infantile Parkinsonism-Dystonia 1 or Dopamine Transporter Deficiency Syndrome via the SLC6A3 Gene

Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via the COQ8B/ADCK4 Gene

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

SUCLA2 -Related Encephalomyopathic Form of Mitochondrial DNA Depletion Syndrome via the SUCLA2 Gene

SUCLG1-Related Encephalomyopathic Form of Mitochondrial DNA Depletion Syndrome via the SUCLG1 Gene

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

Steroid-Resistant Nephrotic Syndrome and XX Female Gonadal Dysgenesis via the NUP107 Gene

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

Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) via the DDX41 Gene

MPV17-Related Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome via the MPV17 Gene

DGUOK-Related Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome via the DGUOK Gene