M AT E R N A L F E TA L
Many patients may have questions regarding specific
genetic disorders that may arise when planning or
expecting a baby. That’s why Baylor Genetics developed GENEAWA R E ™
GeneAware, a reproductive carrier screen that gives Reproductive
your patient the information needed to make important Carrier Screen
family planning decisions.
Knowledge is power.
Plan ahead with GeneAware.
Gain the knowledge
needed to provide your
patients empowered
family planning decisions.
GeneAware is a reproductive carrier screen that analyzes small amounts of
your patient's blood or saliva to reveal a world of medical knowledge that is
beneficial for their family. Individuals and couples of reproductive age can
have GeneAware testing to identify potential risks of having a child with a
genetic condition.
We all have 23 pairs of chromosomes.
One pair of chromosomes determines our sex. The other 22 pairs of chromosomes
are non-sex chromosomes and contain the rest of our genetic information. Every
person has two copies of each gene in their body. Genes act like our body’s
instruction manual. Genes tell our cells what type of cell to be and what to do.
Below you will see the illustration of how DNA, genes, and chromosomes
relate to each other in the coding of genetic information.
DNA
A LONG MOLECULE THAT ENCODES
OUR GENETIC INFORMATION.
CHROMOSOME
A STRUCTURE FOUND IN
MOST LIVING CELLS THAT
CARRY GENETIC INFORMATION
IN THE FORM OF GENES.
GENE
EACH CHROMOSOME IS MADE UP OF
MANY GENES. EACH GENE, IN TURN,
IS COMPRISED OF A REGION OF DNA .
Quick Facts
150+ GENES
GeneAware screens for disease-
causing variants in over 150 genes
by full gene sequencing
Four GeneAware
Panel Options
ACMG & ACOG
DISORDERS RECOMMENDED BY
THE ACMG & ACOG
ASHKENAZI JEWISH
DISORDERS SPECIFIC FOR INDIVIDUALS
OF ASHKENAZI JEWISH DESCENT
BASIC
THE MOST COMMONLY REQUESTED DISORDERS
COMPLETE
THE MOST COMPREHENSIVE SCREENING
Scientists can study a
person’s genes and identify
changes in those genes.
Some changes, known as pathogenic variants, are severe and cause genetic disorders.
Many of these genetic changes are inherited. For the majority of conditions tested in
GeneAware, both copies of the gene need to have a gene change to cause disease.
Therefore, a person who has a gene change in one copy of the gene is a carrier and
most likely does not have any symptoms of the disease. Below is an illustration of
how a genetic condition can be inherited by the children of “carrier” parents.
When a mother or a father is a carrier, they could pass on the gene change to any
of their children. Their children would only be at risk of having symptoms of the
condition if both parents are carriers of the same condition. If both parents are
carriers of the same genetic condition, the chances of passing on the gene change
to their children are:
1 IN 2 CHANCE THAT A CHILD WILL INHERIT A
NORMAL GENE FROM ONE PARENT AND THE GENE
CHANGE FROM THE OTHER PARENT AND WILL BE A
CARRIER OF THE GENETIC CONDITION.
50%
1 IN 4 CHANCE THAT A CHILD WILL INHERIT THE
NORMAL GENE FROM BOTH MOM AND DAD AND WILL
NEITHER BE A CARRIER OF THE GENETIC CONDITION
NOR BE AFFECTED BY THE CONDITION.
25%
1 IN 4 CHANCE THAT A CHILD WILL INHERIT THE GENE
CHANGE, FROM BOTH MOM AND DAD, AND WILL BE
AFFECTED BY THE CONDITION.
25%
If a woman is a carrier of an X-linked condition, each later child is at increased risk for
this condition (50% risk of inheriting the gene change).
Understanding the Results Test Codes
60101 Female Complete
Positive (Carrier) 60201 Female Ashkenazi Jewish
One or more condition-causing gene change(s) was
detected in the genes included in GeneAware. If your 60301 Female ACMG & ACOG
partner was not tested he or she should be tested to
determine carrier status. 60401 Female Basic
60106 Male Complete
Negative
60206 Male Ashkenazi Jewish
No known condition-causing gene change was detected
in the genes included in GeneAware.
60306 Male ACMG & ACOG
60406 Male Basic
How it Works
Order appropriate The patient's
testing for your patient. sample is collected.
1 2
Results are sent The patient's sample is sent
to the physician. to Baylor Genetics.
4 3
More questions?
Discuss the results
Please contact us by
with the patient.
calling 1.800.411.4363.
5 6
40 YEARS OF INNOVATION
4 MILLION+ CLINICAL TESTS PERFORMED
1 MILLION+ FAMILIES HELPED
3 THOUSAND+ TESTS OFFERED
1 MISSION IMPROVE HEALTHCARE
THROUGH GENETICS
Baylor Genetics pioneered the history of genetic testing.
Now, we’re leading the way in precision medicine.
Baylor Genetics is a joint venture of Miraca Holdings, Inc. and Baylor College of Medicine, including
the #1NIH funded Department of Molecular and Human Genetics. A pioneer of precision medicine
for nearly 40 years, Baylor Genetics now offers a full spectrum of clinically relevant genetic testing,
access to world-renowned experts, and the confidence to provide patients with the best care.
1.800.411.43 63
BAY LORGENETIC S.COM
09.27.18
GeneAware Genes List
GeneAware Reproductive
Carrier Screen
GeneAware is a reproductive carrier screen that detects disease-causing variants
in over 150 genes by full gene sequencing, supplemented with copy number
analysis for genes with frequent deletions and Fragile X triplet repeat analysis.
These pathogenic variants are associated with serious
Disorders recommended for screening by
disorders such as Duchenne muscular dystrophy, ACMG AND ACOG the ACMG and ACOG
alpha-thalassemia, and MECP2 duplication syndrome,
which may not be routinely included in other carrier
testing panels. The risk for carrying certain genetic Disorders specific for individuals of
ASHKENAZI JEWISH Ashkenazi Jewish descent
conditions varies from patient to patient based on
several factors. Because of this diversity, we offer four
different GeneAware panels to better meet the needs
of your patients. All individuals are screened for cystic BASIC The most commonly requested disorders
fibrosis and spinal muscular atrophy in all four panel
options. Females are screened for X-linked Duchenne
and Becker muscular dystrophies and Fragile-X COMPLETE The most comprehensive screening
syndrome in all four panel options.
KEY
C Copy number analysis S Full Sequencing Analysis ‡ SMA Silent Carrier Analysis
CGG CGG Repeat Analysis * Females Only
ACMG AND ACOG
Alpha-Thalassemia (HBA1 and HBA2) C S Fanconi Anemia (FANCC) S
Beta-Hemoglobinopathies (Beta-Thalassemia and
C S Fragile-X Syndrome (FMR1) * CGG
Sickle Cell Disease, HBB)
Bloom Syndrome (BLM) S Gaucher Disease (GBA) S
Canavan Disease (ASPA) S Mucolipidosis IV (MCOLN1) C S
Cystic Fibrosis (CFTR) C S Niemann-Pick Disease, Type A (SMPD1) S
Duchenne/Becker Muscular Dystrophy (DMD) * C S Spinal Muscular Atrophy (SMN1) ‡ C
Familial Dysautonomia (IKBKAP) S Tay-Sachs Disease (HEXA) C S
BASIC
Alpha-Thalassemia (HBA1 and HBA2) C S Duchenne/Becker Muscular Dystrophy (DMD) * C S
Beta-Hemoglobinopathies (Beta-Thalassemia and
C S Fragile-X Syndrome (FMR1) * CGG
Sickle Cell Disease, HBB)
Cystic Fibrosis (CFTR) C S Spinal Muscular Atrophy (SMN1) ‡ C
ASHKENAZI JEWISH
3-Phosphoglycerate Dehydrogenase Deficiency (PHGDH) S Galactosemia (GALT) C S
Abetalipoproteinaemia (MTTP) S Gaucher Disease (GBA) S
Alport Syndrome (COL4A3) S Glycogen Storage Disease: Type IA (G6PC) S
Arthrogryposis, Mental Retardataion and Seizures Joubert Syndrome, TMEM216 Related (TMEM216) S
S
(SLC35A3)
Maple Syrup Urine Disease: Type 1B (BCKDHB) S
Autosomal Recessive Polycystic Kidney Disease (PKHD1) S
Mucolipidosis IV (MCOLN1) C S
Bardet-Biedl Syndrome: BBS2 Related (BBS2) S
Multiple Sulphatase Deficiency (SUMF1) S
Bloom Syndrome (BLM) S
Nemaline Myopathy: NEB Related (NEB) C
Canavan Disease (ASPA) S
Niemann-Pick Disease, Type A (SMPD1) S
Carnitine Palmitoyltransferase II Deficiency (CPT2) S
Retinitis Pigmentosa, Autosomal Recessive (DHDDS) S
Congenital Amegakaryocytic Thrombocytopenia (MPL) S
Smith-Lemli-Opitz Syndrome (DHCR7) S
Congenital Disorder of Glycosylation: Type 1A: PMM2
S
Related (PMM2)
Spinal Muscular Atrophy (SMN1) ‡ C
Cystic Fibrosis (CFTR) C S
Tay-Sachs Disease (HEXA) C S
Dihydrolipoamide Dehydrogenase Deficiency (DLD) S
Tyrosinemia: Type I (FAH) S
Duchenne/Becker Muscular Dystrophy (DMD) * C S
Usher Syndrome: Type 1F (PCDH15) S
Dyskeratosis Congenita (RTEL1) S
Usher Syndrome: Type 3A (CLRN1) S
Ehlers-Danlos Syndrome VIIc (ADAMTS2) S
Wilson Disease (ATP7B) S
Familial Dysautonomia (IKBKAP) S
Zellweger Spectrum Disorders: PEX2 Related (PEX2) S
Familial Hyperinsulinism (ABCC8) S
Fanconi Anemia (FANCC) S
Fragile-X Syndrome (FMR1) * CGG
Fukuyama Congenital Muscular Dystrophy/Walker-Warburg
S
Congenital Muscular Dystrophy (FKTN)
COMPLETE
3-Hydroxy-3-Methylglutaryl CoA Lyase Deficiency Congenital Myasthenic Syndrome, RAPSN Related
S S
(HMGCL) (RAPSN)
3-Phosphoglycerate Dehydrogenase Deficiency Crigler-Najjar Syndrome (UGT1A1) S
S
(PHGDH)
Cystic Fibrosis (CFTR) C S
Abetalipoproteinaemia (MTTP) S
Cystinosis (CTNS) C S
Adenosine Deaminase Deficiency (ADA) S
D-Bifunctional Protein Deficiency (HSD17B4) S
Adrenoleukodystrophy (ABCD1) * S
Dihydrolipoamide Dehydrogenase Deficiency (DLD) S
Agammaglobulinemia, X-linked 1 (BTK) * S
Dihydropyrimidine Dehydrogenase Deficiency (DPYD) S
Alpha-1-Antitrypsin Deficiency (SERPINA1) S
Duchenne/Becker Muscular Dystrophy (DMD) * C S
Alpha-Mannosidosis (MAN2B1) S
Alpha-Thalassemia (HBA1 and HBA2) C S Dyskeratosis Congenita (RTEL1) S
Alport Syndrome (COL4A3) S Ehlers-Danlos Syndrome VIIc (ADAMTS2) S
Angelman Syndrome (UBE3A) S Ethylmalonic Encephalopathy (ETHE1) S
Argininosuccinate Lyase Deficiency (ASL) S Familial Dysautonomia (IKBKAP) S
Arthrogryposis, Mental Retardataion and Seizures Familial Hyperinsulinism (ABCC8) S
S
(SLC35A3)
Fanconi Anemia (FANCC) S
Aspartylglucosaminuria (AGA) S
Fragile-X Syndrome (FMR1) * CGG
Ataxia with Vitamin E Deficiency (TTPA) S
Fukuyama Congenital Muscular Dystrophy/Walker-
Ataxia-Telangiectasia (ATM) S S
Warburg Congenital Muscular Dystrophy (FKTN)
Atelosteogenesis Type 2 (SLC26A2) S Fumarase Hydratase Deficiency (FH) S
Autosomal Recessive Congenital Ichthyosis, TGM1 Galactosemia (GALT) C S
S
Related (TGM1)
Gaucher Disease (GBA) S
Autosomal Recessive Polycystic Kidney Disease
S
(PKHD1) Glucose-6-Phosphate Dehydrogenase Deficiency
S
(G6PD) *
Autosomal Recessive Spastic Ataxia of
S
Charlevoix-Saguenay (SACS) Glutaric Acidemia I (GCDH) S
Bardet-Biedl Syndrome: BBS1 Related (BBS1) S Glycine Encephalopathy (AMT) S
Bardet-Biedl Syndrome: BBS10 Related (BBS10) S Glycine Encephalopathy (GLDC) S
Bardet-Biedl Syndrome: BBS2 Related (BBS2) S Glycogen Storage Disease: Type IA (G6PC) S
Beta-Hemoglobinopathies (Beta-Thalassemia and Glycogen Storage Disease: Type IB (SLC37A4) S
C S
Sickle Cell Disease, HBB)
Glycogen Storage Disease: Type II (Pompe Disease)
BH4-Deficient Hyperphenylalaninemia A (PTS) S S
(GAA)
Biotinidase Deficiency (BTD) S Glycogen Storage Disease: Type III (AGL) S
Bloom Syndrome (BLM) S
GM1-Gangliosidosis (GLB1) S
Canavan Disease (ASPA) S
GRACILE Syndrome (BCS1L) S
Carnitine Deficiency, Systemic Primary (SLC22A5) S
Hereditary Fructose Intolerance (ALDOB) S
Carnitine Palmitoyltransferase IA Deficiency (CPT1A) S
Hereditary Motor and Sensory Neuropathy with
Carnitine Palmitoyltransferase II Deficiency (CPT2) S S
Agenesis of the Corpus Callosum (SLC12A6)
Cartilage-Hair Hypoplasia (RMRP) S Herlitz Junctional Epidermolysis Bullosa: LAMA3
S
Related (LAMA3)
Cerebrotendinous Xanthomatosis (CYP27A1) S
Herlitz Junctional Epidermolysis Bullosa: LAMB3
Chronic Granulomatous Disease, X-linked (CYBB) * S S
Related (LAMB3)
Citrin Deficiency (SLC25A13) S
Herlitz Junctional Epidermolysis Bullosa: LAMC2
S
Citrullinemia Type 1 (ASS1) S Related (LAMC2)
Congenital Amegakaryocytic Thrombocytopenia (MPL) S Hermansky-Pudlak Syndrome: HPS3 Related (HPS3) S
Congenital Disorder of Glycosylation: Type 1A: PMM2 Homocystinuria Caused by Cystathionine
S S
Related (PMM2) Beta-Synthase Deficiency (CBS)
Congenital Disorder of Glycosylation: Type 1B: MPI Hyperornithinemia-Hyperammonemia-
S S
Related (MPI) Homocitrullinuria (HHH) Syndrome (SLC25A15)
Congenital Myasthenic Syndrome, CHAT Related (CHAT) S Hypophosphatasia (ALPL) S
Congenital Myasthenic Syndrome, CHRNE Related Inclusion Body Myopathy: Type 2 (GNE) S
S
(CHRNE)
Infantile Neuroaxonal Dystrophy 1 (PLA2G6) S
Congenital Myasthenic Syndrome, DOK7 Related
S Isovaleric Acidemia (IVD) S
(DOK7 )
COMPLETE
Joubert Syndrome, TMEM216 Related (TMEM216) S Nonsyndromic Hearing Loss and Deafness: GJB2
S
Related DFNB1 (GJB2)
Juvenile Nephronopthisis (NPHP1) C
Nonsyndromic Hearing Loss and Deafness: GJB6
C
Related DFNB1 (GJB6)
Krabbe Disease (GALC) C S
Ornithine Transcarbamylase Deficiency (OTC) * S
Leigh Syndrome: French-Canadian Type (LRPPRC) S
Leukoencephalopathy with Vanishing White Matter, Pendred Syndrome (SLC26A4) S
S
EIF2B5 Related (EIF2B5)
Phenylalanine Hydroxylase Deficiency (PAH) S
Limb-Girdle Muscular Dystrophy, Type 2A (CAPN3) S
POLG-Related Disorders (POLG) S
Limb-Girdle Muscular Dystrophy, Type 2C (SGCG) S
Primary Congenital Glaucoma (CYP1B1 ) S
Limb-Girdle Muscular Dystrophy, Type 2D (SGCA) S
Primary Hyperoxaluria: Type 1 (AGXT) S
Limb-Girdle Muscular Dystrophy, Type 2E (SGCB) S
Primary Hyperoxaluria: Type 2 (GRHPR) S
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase
S
Deficiency (HADHA) PROP1-Related Combined Pituitary Hormone
S
Deficiency (PROP1)
Lowe Syndrome (OCRL) * S
Propionic Acidemia, PCCA Related (PCCA) S
Lysinuric Protein Intolerance (SLC7A7) S
Propionic Acidemia, PCCB Related (PCCB) S
Maple Syrup Urine Disease: Type 1A (BCKDHA) S
Pycnodysostosis (CTSK) S
Maple Syrup Urine Disease: Type 1B (BCKDHB) S
Pyruvate Carboxylase Deficiency (PC) S
Maple Syrup Urine Disease: Type II (DBT) S
MECP2 Duplication Syndrome (MECP2) * C Retinitis Pigmentosa, Autosomal Recessive (DHDDS) S
Medium Chain Acyl-CoA Dehydrogenase Deficiency Rhizomelic Chondrodysplasia Punctata: Type I (PEX7) S
S
(ACADM)
Salla Disease (SLC17A5) S
Megalencephalic Leukoencephalopathy with
S
Subcortical Cysts, MLC1 Related (MLC1) Sandhoff Disease (HEXB) S
Metachromatic Leukodystrophy (ARSA) S Severe Combined Immunodeficiency, Athabascan Type
S
(DCLRE1C)
Methylmalonic Aciduria and Homocystinuria: Type cblC
S
(MMACHC) Severe Combined Immunodeficiency, X-linked (IL2RG) * S
Mucolipidosis II (GNPTAB) S
Sjogren-Larsson Syndrome (ALDH3A2) S
Mucolipidosis IV (MCOLN1) C S
Smith-Lemli-Opitz Syndrome (DHCR7) S
Mucopolysaccharidosis, Type I (IDUA) S
Spinal Muscular Atrophy (SMN1) ‡ C
Mucopolysaccharidosis, Type IIIA
S
(Sanfilippo Syndrome A) (SGSH) Tay-Sachs Disease (HEXA) C S
Multiple Sulphatase Deficiency (SUMF1) S Tyrosine Hydroxylase Deficiency (TH) S
Muscle-Eye-Brain Disease (POMGNT1) S Tyrosinemia: Type I (FAH) S
Nemaline Myopathy: NEB Related (NEB) C
Usher Syndrome: Type 1B (MYO7A) S
Nephrotic Syndrome: Type 1 (NPHS1) S
Usher Syndrome: Type 1C (USH1C) S
Nephrotic Syndrome: Type 2 (NPHS2) S
Usher Syndrome: Type 1D (CDH23) S
Neuronal Ceroid Lipofuscinosis, CLN3 Related (CLN3) C
Usher Syndrome: Type 1F (PCDH15) S
Neuronal Ceroid Lipofuscinosis, CLN5 Related (CLN5) S
Usher Syndrome: Type 2A (USH2A) S
Neuronal Ceroid Lipofuscinosis, CLN6 Related (CLN6) S
Usher Syndrome: Type 3A (CLRN1) S
Neuronal Ceroid Lipofuscinosis, CLN8 Related (CLN8) S
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
S
Neuronal Ceroid Lipofuscinosis, PPT1 Related (PPT1) S (ACADVL)
Neuronal Ceroid Lipofuscinosis, TPP1 Related (TPP1) S Wilson Disease (ATP7B) S
Niemann-Pick Disease, Type A (SMPD1) S Wiskott-Aldrich Syndrome (WAS) S
Niemann-Pick Disease, Type C (NPC1) S Zellweger Spectrum Disorders: PEX1 Related (PEX1) S
Nijmegen Breakage Syndrome (NBN) S Zellweger Spectrum Disorders: PEX2 Related (PEX2) S
