Carrier screening can inform a couple if they are at risk for having a child with certain genetic conditions. The current guidelines from the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) use the patient’s ethnicity to make recommendations regarding carrier screening. However, more expanded options are becoming increasingly available.


Personalized Genomics Carrier Screening provides you and your patients with helpful insight for their procreative management.  We screen for over 100 genetically inherited diseases including cystic fibrosis, Tay-Sachs, sickle cell, thalassemia, fragile X syndrome, and many more.        

Does insurance cover the test?

Insurance may cover the costs of these tests, but we recommend that you contact your insurance company to confirm your individual coverage.


Test Features:

»  Laboratory validated tests for more than 100 genetic markers.

» Customize your reports by choosing an abbreviated panel or single test.

»  Fast, simple whole blood or saliva sample collection.

» Quick turnaround time with results in 1 week.

What Makes Us Different:

From Data to Knowledge

Recommendation Engine

Pretest Screening

Guideline Driven Accuracy

From Knowledge to Care

Actionable Results

Treatment Guidance

Genetic Counseling

Ongoing Support

Patient Education



Express Panel

»  Cystic Fibrosis

»  Spinal Muscular Atrophy

»  Fragile X

»  Tay-Sachs Disease

»  Sickle Cell Anemia

»  Alpha and Beta Thalassemia


Ashkenazi Jewish Panel

»  Bloom Syndrome

»  Canavan Disease

»  Cystic Fibrosis

»  Familial Dysautonomia

»  Familial Hyperinsulinism

»  Fanconi Anemia

»  Glycogen Storage Disease 1A

»  Gaucher Disease

»  Joubert Syndrome Type 2

»  Lipoamide Dehydrogenase Deficiency

»  Maple Syrup Urine

»  Mucolipidosis Type V

»  Nemaline Myopathy

»  Niemann-Pick Disease Type A

»  Spinal Muscular Atrophy

»  Tay-Sachs Disease

»  Usher IF and III

Expanded Carrier Screening Panel

»  ABCC8-related Hyperinsulinism

»  Glutaric Acidemia Type 1

»  Mucolipidosis IV

»  Achromatopsia

»  Glycogen Storage Disease Type Ia

»  Muscle-Eye-Brain Disease

»  Alkaptonuria

»  Glycogen Storage Disease Type Ib

»  NEB-related Nemaline Myopathy

»  Alpha-1 Antirypsin Deficiency

»  Glycogen Storage Disease Type III

»  Niemann-Pick Disease Type C

»  Alpha-Mannosidosis

»  Glycogen Storage Disease Type V

»  Niemann-Pick Disease, SMPD1-associated

»  Andermann Syndrome

»  GRACILE Syndrome

»  Nijmegen Breakage Syndrome


»  Hb Beta Chain-related Hemoglobinopathy

»  Northern Epilepsy

»  Aspartylglycosaminuria

(Including Beta Thalassemia and Sickle Cell

»  Pendred Syndrome

»  Ataxia With Vitamin E Deficiency


»  PEX1-related Zellweger Syndrome Spectrum

»  Ataxia-Telangiectasia

»  Hereditary Fructose Intolerance

»  Phenylalanine Hydroxylase Deficiency

»  Autosomal Recessive Polycystic Kidney Disease

»  Hereditary Thymine-Uraciluria

»  Polyglandular Autoimmune Syndrome Type 1

»  Bardet-Biedl Syndrome, BBS1-related

»  Herlitz Junctional Epidermolysis Bullosa, LAMA3-

»  Pompe Disease

»  Bardet-Biedl Syndrome, BBS10-related


»  PPT1-related Neuronal Ceroid Lipofuscinosis

»  Biotinidase Deficiency

»  Herlitz Junctional Epidermolysis Bullosa, LAMB3-

»  Primary Carnitine Deficiency

»  Bloom Syndrome


»  Primary Hyperoxaluria Type 1

»  Canavan disease

»  Herlitz Junctional Epidermolysis Bullosa, LAMC2-

»  Primary Hyperoxaluria Type 2

»  Carnitine Palmitoyltransferase IA Deficiency


»  PROP1-related Combined Pituitary Hormone

»  Carnitine Palmitoyltransferase II Deficiency

»  Hexosaminidase A Deficiency (Including Tay-


»  Cartilage-Hair Hypoplasia

Sachs Disease)

»  Pseudocholinesterase Deficiency

»  Citrullinemia Type 1

»  Homocystinuria Caused by Cystathionine Beta-

»  Pycnodysostosis

»  CLN3-related neuronal Ceroid Lipofuscinosis

Synthase Deficiency

»  Rhizomelic Chondrodysplasia Punctata Type 1

»  CLN5-related neuronal Ceroid Lipofuscinosis

»  Hurler Syndrome

»  Salla Disease

»  Cohen Syndrome

»  Hypophosphatasia, Autosomal Recessive

»  Segawa Syndrome

»  Congenital Disorder of Glycosylation Type Ia

»  Inclusion Body Myopathy 2

»  Short Chain Acyl-CoA Dehydrogenase Deficiency

»  Congenital Disorder of Glycosylation Type Ib

»  Isovaleric Acidemia

»  Sjogren-Larsson Syndrome

»  Congenital Finnish Nephrosis

»  Joubert Syndrome 2

»  Smith-Lemli-Opitz Syndrome

»  Costeff Optic Atrophy Syndrome

»  Krabbe Disease

»  Steroid-Resistant Nephrotic Syndrome

»  Cystic Fibrosis

»  Limb-Girdle Muscular Dystrophy Type 2D

»  Sulfate Transporter-Related

»  Cystinosis

»  Limb-Girdle Muscular Dystrophy Type 2E


»  D-Bifunctional Protein Deficiency

»  Lipoamide Dehydrogenase Deficiency

»  TPP1-related Neuronal Ceroid Lipofuscinosis

»  Factor XI Deficiency

»  Long Chain 3-Hydroxyacyl-CoA Dehydrogenase

»  Tyrosinemia Type I

»  Familial Dysautonomia


»  Usher Syndrome Type 1F

»  Familial Mediterranean Fever

»  Maple Syrup Urine Disease Type 1B

»  Usher Syndrome Type 3

»  Fanconi Anemia Type C

»  Medium Chain Acyl-CoA Dehydrogenase

»  Very Long Chain Acyl-CoA Dehydrogenase

»  Galactosemia



»  Gaucher Disease

»  Megalencephalic Leukoencephalopathy With

»  Wilson Disease

»  GJB2-related DFNB1 Nonsyndromic Hearing

Subcortical Cysts

»  Spinal Muscular Atrophy

Loss and Deafness

»  Metachromatic Leukodystrophy

»  Fragile X Syndrome


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