Test Descriptions Found:

134

Reproductive and Infertility Genetics

CMA

46,XX Sex Reversal

Test Available Sequencing Del/Dup Other
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Disorders of Sex Development Sequencing Panel$1990.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Male Infertility Sequencing Panel$2190.00$1670.00
SRY-related Disorders of Sex Development via the SRY Gene$440.00$690.00

46,XY Gonadal Dysgenesis

Test Available Sequencing Del/Dup Other
DHH-related Disorders of Sex Development via the DHH Gene$540.00$690.00

46,XY Sex Reversal

Test Available Sequencing Del/Dup Other
DHH-related Disorders of Sex Development via the DHH Gene$540.00$690.00
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Disorders of Sex Development Sequencing Panel$1990.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Male Infertility Sequencing Panel$2190.00$1670.00
NR0B1-Related Disorders via the NR0B1 Gene$540.00$690.00
NR5A1-Related Disorders via the NR5A1 Gene$650.00$690.00
SRY-related Disorders of Sex Development via the SRY Gene$440.00$690.00

46,XY Sex Reversal, Type 5

Test Available Sequencing Del/Dup Other
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Disorders of Sex Development Sequencing Panel$1990.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Male Infertility Sequencing Panel$2190.00$1670.00

46,XY Sex Reversal, Type 6

Test Available Sequencing Del/Dup Other
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Disorders of Sex Development Sequencing Panel$1990.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Male Infertility Sequencing Panel$2190.00$1670.00

Androgen Resistance Syndrome

Test Available Sequencing Del/Dup Other
Androgen Insensitivity Syndrome (AIS) via the Androgen Receptor (AR) Gene$990.00$690.00
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Disorders of Sex Development Sequencing Panel$1990.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Male Infertility Sequencing Panel$2190.00$1670.00

CATSPER-Related Male Infertility

Test Available Sequencing Del/Dup Other
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Male Infertility Sequencing Panel$2190.00$1670.00
Male Infertility via the CATSPER1 Gene$1060.00$690.00

CHARGE Syndrome

Test Available Sequencing Del/Dup Other
CHARGE and Kallmann Syndromes Sequencing Panel$1440.00$730.00
CHARGE and Kallmann Syndromes via the CHD7 Gene$990.00$690.00
CHARGE Syndrome via the SEMA3E Gene$990.00

Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism (Thyroid Dysgenesis) via the NKX2-1/TTF1 Gene$680.00$690.00
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00
Pulmonary Fibrosis and Surfactant Dysfunction Disorders Sequencing Panel$1490.00$840.00

Congenital Adrenal Hypoplasia

Test Available Sequencing Del/Dup Other
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Disorders of Sex Development Sequencing Panel$1990.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Male Infertility Sequencing Panel$2190.00$1670.00
NR0B1-Related Disorders via the NR0B1 Gene$540.00$690.00

Congenital Bilateral Absence Of The Vas Deferens

Test Available Sequencing Del/Dup Other
Cystic Fibrosis and CF-Related Disorders via the CFTR Gene$990.00$690.00
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Male Infertility Sequencing Panel$2190.00$1670.00

Cystic Fibrosis

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Cystic Fibrosis and CF-Related Disorders via the CFTR Gene$990.00$690.00
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Male Infertility Sequencing Panel$2190.00$1670.00
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel$1990.00$1290.00

Follicle-Stimulating Hormone Deficiency

Test Available Sequencing Del/Dup Other
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Disorders of Sex Development Sequencing Panel$1990.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Male and Female Infertility via the FSHB Gene$370.00$690.00
Male Infertility Sequencing Panel$2190.00$1670.00

Gaucher Disease

Test Available Sequencing Del/Dup Other
Comprehensive Fetal and Neonatal Loss Panel
Fetal Concerns Sequencing Panel$1590.00
Gaucher Disease via the GBA Gene$850.00
Metachromatic Leukodystrophy via the PSAP Gene$840.00$690.00

Gonadotropin-Independent Familial Sexual Precocity

Test Available Sequencing Del/Dup Other
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Disorders of Sex Development Sequencing Panel$1990.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
LHCGR-related Disorders via the LHCGR Gene$990.00$690.00
Male Infertility Sequencing Panel$2190.00$1670.00

Hypogonadotropic Hypogonadism

Test Available Sequencing Del/Dup Other
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Disorders of Sex Development Sequencing Panel$1990.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Idiopathic Hypogonadotropic Hypogonadism (IHH) via the GNRH1 Gene$440.00$690.00
Idiopathic Hypogonadotropic Hypogonadism (IHH) via the GNRHR Gene$490.00$690.00
Idiopathic Hypogonadotropic Hypogonadism (IHH) via the KISS1 Gene$440.00$690.00
Idiopathic Hypogonadotropic Hypogonadism (IHH) via the KISS1R Gene$610.00$690.00
Idiopathic Hypogonadotropic Hypogonadism (IHH) via the TAC3 Gene$540.00$690.00
Idiopathic Hypogonadotropic Hypogonadism (IHH) via the TACR3 Gene$650.00$690.00
Male Infertility Sequencing Panel$2190.00$1670.00

Leydig Cell Hypoplasia

Test Available Sequencing Del/Dup Other
LHCGR-related Disorders via the LHCGR Gene$990.00$690.00

Lissencephaly

Test Available Sequencing Del/Dup Other
Classic Lissencephaly via the DCX Gene$610.00$690.00
Classic lissencephaly via the PAFAH1B1/LIS1 Gene$710.00$690.00
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Disorders of Sex Development Sequencing Panel$1990.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Lissencephaly 3 via the TUBA1A Gene$490.00$690.00
Lissencephaly with Cerebellar Hypoplasia via the RELN Gene$990.00$690.00
Male Infertility Sequencing Panel$2190.00$1670.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00
X-linked Lissencephaly-2 via the ARX Gene$650.00$690.00

Male Infertility

Test Available Sequencing Del/Dup Other
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Male Infertility Sequencing Panel$2190.00$1670.00
Male Infertility with Large-headed Spermatozoa via the AURKC Gene$650.00$690.00

Mullerian Aplasia And Hyperandrogenism

Test Available Sequencing Del/Dup Other
46,XX Disorder of Sex Development (DSD) via the WNT4 Gene$610.00$690.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Disorders of Sex Development Sequencing Panel$1990.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Male Infertility Sequencing Panel$2190.00$1670.00

Oocyte Maturation Defect

Test Available Sequencing Del/Dup Other
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Oocyte Maturation Defect (OOMD) via the ZP1 Gene$940.00$690.00

Ovarian Dysgenesis

Test Available Sequencing Del/Dup Other
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Ovarian Dysgenesis via the BMP15 Gene$490.00$690.00
Ovarian Dysgenesis via the FSHR Gene$860.00$690.00

Ovarian Hyperstimulation Syndrome

Test Available Sequencing Del/Dup Other
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Ovarian Hyperstimulation Syndrome via the FSHR Gene$860.00$690.00

Perrault Syndrome

Test Available Sequencing Del/Dup Other
Autosomal Dominant Progressive External Ophthalmoplegia and other C10orf2-related disorders via the TWNK/C10orf2 Gene$680.00$690.00
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Perrault Syndrome Type 1 via the HSD17B4 Gene$990.00$690.00
Perrault Syndrome Type 2 via the HARS2 Gene$780.00$690.00
Perrault Syndrome Type 3 and Deafness, Autosomal Recessive 8 (DFNB8) via the CLPP Gene$650.00$690.00
Perrault Syndrome Type 4 via the LARS2 Gene$1160.00$690.00

Premature Ovarian Failure

Test Available Sequencing Del/Dup Other
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Fragile X Syndrome or Premature Ovarian Failure (POF1) via FMR1 CGG Repeat Expansion$690.00$390.00
NR5A1-Related Disorders via the NR5A1 Gene$650.00$690.00
Premature Ovarian Failure via the MCM8 Gene$1100.00

Serkal Syndrome

Test Available Sequencing Del/Dup Other
46,XX Disorder of Sex Development (DSD) via the WNT4 Gene$610.00$690.00

Spermatogenic Failure

Test Available Sequencing Del/Dup Other
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Globozoospermia via the SPATA16 Gene$780.00$690.00
Male Infertility Sequencing Panel$2190.00$1670.00
NR5A1-Related Disorders via the NR5A1 Gene$650.00$690.00
Y Chromosome Deletion Analysis$440.00

Testicular Anomalies with or without Congenital Heart Disease

Test Available Sequencing Del/Dup Other
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Disorders of Sex Development Sequencing Panel$1990.00$1670.00
Male Infertility Sequencing Panel$2190.00$1670.00

Testosterone 17-Beta-Dehydrogenase Deficiency

Test Available Sequencing Del/Dup Other
46,XY Disorder of Sex Development (DSD) via the HSD17B3 Gene$780.00$690.00
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Disorders of Sex Development Sequencing Panel$1990.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Male Infertility Sequencing Panel$2190.00$1670.00

Thanatophoric Dysplasia

Test Available Sequencing Del/Dup Other
Craniosynostosis and Related Disorders Sequencing Panel$1540.00$770.00
Facial Dysostosis Related Disorders Sequencing Panel$1690.00$840.00
FGFR3-Related Disorders via the FGFR3 Gene$970.00$690.00
Short Rib Skeletal Dysplasia Sequencing Panel$1740.00$840.00
Thanatophoric Dysplasia (TD) via the FGFR3 Gene$520.00$690.00

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