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Searched: Alstrom Syndrome via ALMS1 Gene Sequencing with CNV Detection

Search Results

Wolfram Syndrome Panel

Test Code

Method

Price

10057

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
Lynch Syndrome Panel

Test Code

Method

Price

5463

Sequencing with CNV PG-Select

$540
Infantile Parkinsonism-Dystonia 1 or Dopamine Transporter Deficiency Syndrome via the SLC6A3 Gene

Test Code

Method

Price

12607

Sequencing with CNV PGxome

$890
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 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
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
DGUOK-Related Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome via the DGUOK Gene

Test Code

Method

Price

15241

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
Treacher Collins Syndrome/Mandibulofacial Dysostosis/Miller Syndrome/Acrofacial Dysostosis, Nagar Type Panel

Test Code

Method

Price

10235

Sequencing with CNV PGxome

$890
Cornelia de Lange Syndrome (CdLS) and Cornelia de Lange Syndrome-Related Disorders Panel

Test Code

Method

Price

10399

Sequencing with CNV PGxome

$890
Steroid-Resistant Nephrotic Syndrome (SRNS)/ Focal Segmental Glomerulosclerosis (FSGS) via the TRPC6 Gene

Test Code

Method

Price

11771

Sequencing with CNV PGxome

$890

2041

Sanger Sequencing

$940
Chudley-Mccullough Syndrome (CMCS) and Deafness, Autosomal Recessive 82 (DFNB82) via the GPSM2 Gene

Test Code

Method

Price

11365

Sequencing with CNV PGxome

$890

1618

Sanger Sequencing

$1020
Nephrogenic Diabetes Insipidus (NDI) and Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) via the AVPR2 Gene

Test Code

Method

Price

981

Sanger Sequencing

$580

8907

Sequencing with CNV PGxome

$890
Usher Syndrome Type 2 and Deafness, Autosomal Recessive 31 (DFNB31) via the WHRN Gene

Test Code

Method

Price

11807

Sequencing with CNV PGxome

$890

697

Sanger Sequencing

$870

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Search Results

Wolfram Syndrome Panel

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

Lynch Syndrome Panel

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

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

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

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

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

Treacher Collins Syndrome/Mandibulofacial Dysostosis/Miller Syndrome/Acrofacial Dysostosis, Nagar Type Panel

Cornelia de Lange Syndrome (CdLS) and Cornelia de Lange Syndrome-Related Disorders Panel

Steroid-Resistant Nephrotic Syndrome (SRNS)/ Focal Segmental Glomerulosclerosis (FSGS) via the TRPC6 Gene

Chudley-Mccullough Syndrome (CMCS) and Deafness, Autosomal Recessive 82 (DFNB82) via the GPSM2 Gene

Nephrogenic Diabetes Insipidus (NDI) and Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) via the AVPR2 Gene

Usher Syndrome Type 2 and Deafness, Autosomal Recessive 31 (DFNB31) via the WHRN Gene